A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760317



Internal ID10376625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57119320..57404533hg38UCSC Ensembl
Innerchr13:57693454..57978667hg19UCSC Ensembl
Innerchr13:56591455..56876668hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38285214
hg19285214
hg18285214
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021541, essv7021443, essv7021634, essv7021568, essv7021439, essv7021622, essv7021537, essv7021591, essv7021491, essv7021486, essv7021501, essv7021487, essv7021465, essv7021563, essv7021441, essv7021594, essv7021530, essv7021473, essv7021612, essv7021578, essv7021550, essv7021435, essv7021590, essv7021562, essv7021543, essv7021596, essv7021513, essv7021471, essv7021464, essv7021570, essv7021564, essv7021569, essv7021512, essv7021452, essv7021637, essv7021600, essv7021482, essv7021572, essv7021503, essv7021431, essv7021437, essv7021527, essv7021592, essv7021509, essv7021457, essv7021462, essv7021498, essv7021589, essv7021585, essv7021552, essv7021492, essv7021601, essv7021538, essv7021474, essv7021525, essv7021614, essv7021546, essv7021446, essv7021573, essv7021549, essv7021536, essv7021494, essv7021576, essv7021574, essv7021617, essv7021504, essv7021468, essv7021520, essv7021448, essv7021595, essv7021611, essv7021626, essv7021631, essv7021451, essv7021535, essv7021528, essv7021559, essv7021476, essv7021553, essv7021580, essv7021534, essv7021453, essv7021438, essv7021615, essv7021483, essv7021442, essv7021515, essv7021581, essv7021560, essv7021545, essv7021519, essv7021623, essv7021602, essv7021445, essv7021489, essv7021625, essv7021479, essv7021548, essv7021579, essv7021542, essv7021502, essv7021529, essv7021540, essv7021532, essv7021524, essv7021508, essv7021609, essv7021454, essv7021587, essv7021436, essv7021551, essv7021475, essv7021605, essv7021539, essv7021618, essv7021635, essv7021507, essv7021484, essv7021606, essv7021493, essv7021619, essv7021554, essv7021463, essv7021561, essv7021449, essv7021586, essv7021500, essv7021440, essv7021434, essv7021638, essv7021584, essv7021496, essv7021461, essv7021523, essv7021608, essv7021480, essv7021459, essv7021547, essv7021495, essv7021485, essv7021460, essv7021627, essv7021450, essv7021481, essv7021565, essv7021470, essv7021456, essv7021620, essv7021516, essv7021557, essv7021628, essv7021613, essv7021593, essv7021472, essv7021447, essv7021624, essv7021517, essv7021458, essv7021616, essv7021598, essv7021583, essv7021526, essv7021629, essv7021469, essv7021514, essv7021636, essv7021604, essv7021511, essv7021556, essv7021567, essv7021603, essv7021478, essv7021597, essv7021582, essv7021497, essv7021630, essv7021558, essv7021575, essv7021467, essv7021607, essv7021531, essv7021571, essv7021506, essv7021505, essv7021518, essv7021490, essv7021432
SamplesRW_0059, RW_0660, RW_0123, RW_0585, RW_0300, RW_0635, RW_0356, RW_0095, RW_0583, RW_0203, RW_0636, RW_0644, RW_0292, RW_0030, RW_0329, RW_0239, RW_0158, RW_0520, RW_0323, RW_0610, RW_0345, RW_0538, RW_0258, RW_0634, RW_0604, RW_0152, RW_0178, RW_0090, RW_0606, RW_0270, RW_0141, RW_0146, RW_0560, RW_0168, RW_0656, RW_0243, RW_0330, RW_0555, RW_0189, RW_0180, RW_0188, RW_0319, RW_0022, RW_0217, RW_0116, RW_0504, RW_0617, RW_0551, RW_0271, RW_0062, RW_0624, RW_0615, RW_0049, RW_0113, RW_0626, RW_0241, RW_0115, RW_0246, RW_0304, RW_0218, RW_0358, RW_0357, RW_0228, RW_0136, RW_0131, RW_0017, RW_0112, RW_0570, RW_0512, RW_0074, RW_0233, RW_0623, RW_0269, RW_0592, RW_0111, RW_0558, RW_0522, RW_0541, RW_0639, RW_0272, RW_0540, RW_0023, RW_0173, RW_0118, RW_0659, RW_0500, RW_0651, RW_0545, RW_0061, RW_0602, RW_0600, RW_0349, RW_0171, RW_0005, RW_0505, RW_0546, RW_0645, RW_0221, RW_0311, RW_0279, RW_0567, RW_0214, RW_0593, RW_0530, RW_0299, RW_0054, RW_0302, RW_0177, RW_0029, RW_0587, RW_0140, RW_0001, RW_0515, RW_0625, RW_0257, RW_0327, RW_0607, RW_0252, RW_0534, RW_0333, RW_0307, RW_0008, RW_0201, RW_0056, RW_0578, RW_0320, RW_0106, RW_0231, RW_0667, RW_0609, RW_0527, RW_0523, RW_0521, RW_0195, RW_0120, RW_0042, RW_0073, RW_0513, RW_0126, RW_0669, RW_0235, RW_0021, RW_0663, RW_0529, RW_0190, RW_0335, RW_0048, RW_0589, RW_0632, RW_0275, RW_0132, RW_0284, RW_0164, RW_0119, RW_0215, RW_0238, RW_0045, RW_0128, RW_0579, RW_0183, RW_0154, RW_0124, RW_0613, RW_0079, RW_0070, RW_0518, RW_0306, RW_0646, RW_0209, RW_0110, RW_0018, RW_0508, RW_0550, RW_0336, RW_0060, RW_0084, RW_0139, RW_0034, RW_0213, RW_0630, RW_0344, RW_0162
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760317
Frequency
Sample Size1109
Observed Gain3
Observed Loss181
Observed Complex0
Frequencyn/a


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