A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764234



Internal ID10378270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72280850..72346757hg38UCSC Ensembl
Innerchr1:72746533..72812440hg19UCSC Ensembl
Innerchr1:72519121..72585028hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3865908
hg1965908
hg1865908
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005513, essv7005418, essv7005474, essv7005499, essv7005421, essv7005431, essv7005515, essv7005453, essv7005468, essv7005447, essv7005494, essv7005576, essv7005416, essv7005572, essv7005430, essv7005501, essv7005422, essv7005448, essv7005452, essv7005495, essv7005428, essv7005542, essv7005519, essv7005570, essv7005530, essv7005432, essv7005514, essv7005451, essv7005420, essv7005483, essv7005507, essv7005464, essv7005487, essv7005527, essv7005525, essv7005480, essv7005524, essv7005504, essv7005577, essv7005425, essv7005552, essv7005429, essv7005442, essv7005475, essv7005441, essv7005419, essv7005415, essv7005473, essv7005553, essv7005560, essv7005437, essv7005461, essv7005444, essv7005539, essv7005509, essv7005574, essv7005533, essv7005457, essv7005532, essv7005476, essv7005551, essv7005529, essv7005536, essv7005449, essv7005469, essv7005443, essv7005465, essv7005459, essv7005455, essv7005568, essv7005561, essv7005565, essv7005555, essv7005479, essv7005436, essv7005498, essv7005472, essv7005526, essv7005486, essv7005573, essv7005503, essv7005440, essv7005521, essv7005506, essv7005482, essv7005548, essv7005543, essv7005450, essv7005516, essv7005537, essv7005492, essv7005544, essv7005491, essv7005427, essv7005538, essv7005517, essv7005558, essv7005540, essv7005488, essv7005535, essv7005462, essv7005550, essv7005569, essv7005433, essv7005496, essv7005460, essv7005484, essv7005435, essv7005485, essv7005518, essv7005546, essv7005557, essv7005417, essv7005541, essv7005490, essv7005463, essv7005458, essv7005520, essv7005505, essv7005547, essv7005564, essv7005497, essv7005477, essv7005575, essv7005424, essv7005438, essv7005512, essv7005493, essv7005508, essv7005559, essv7005563, essv7005571, essv7005566, essv7005531, essv7005454, essv7005426, essv7005470, essv7005502, essv7005562, essv7005471, essv7005554, essv7005466, essv7005528, essv7005446, essv7005579, essv7005481, essv7005439, essv7005510, essv7005549
SamplesRW_0208, RW_0059, RW_0123, RW_0635, RW_0071, RW_0237, RW_0644, RW_0148, RW_0069, RW_0553, RW_0105, RW_0101, RW_0058, RW_0046, RW_0196, RW_0010, RW_0007, RW_0262, RW_0582, RW_0258, RW_0634, RW_0595, RW_0152, RW_0090, RW_0270, RW_0650, RW_0312, RW_0146, RW_0560, RW_0656, RW_0192, RW_0025, RW_0181, RW_0116, RW_0096, RW_0309, RW_0504, RW_0614, RW_0255, RW_0334, RW_0315, RW_0137, RW_0113, RW_0626, RW_0358, RW_0502, RW_0536, RW_0357, RW_0131, RW_0017, RW_0570, RW_0544, RW_0111, RW_0577, RW_0519, RW_0568, RW_0540, RW_0147, RW_0023, RW_0173, RW_0539, RW_0500, RW_0224, RW_0324, RW_0061, RW_0602, RW_0600, RW_0575, RW_0321, RW_0576, RW_0505, RW_0185, RW_0221, RW_0608, RW_0279, RW_0552, RW_0601, RW_0002, RW_0077, RW_0611, RW_0593, RW_0530, RW_0054, RW_0296, RW_0091, RW_0587, RW_0250, RW_0140, RW_0222, RW_0625, RW_0064, RW_0607, RW_0534, RW_0210, RW_0307, RW_0328, RW_0056, RW_0289, RW_0578, RW_0036, RW_0249, RW_0320, RW_0667, RW_0316, RW_0308, RW_0194, RW_0078, RW_0527, RW_0521, RW_0195, RW_0145, RW_0622, RW_0507, RW_0080, RW_0543, RW_0326, RW_0190, RW_0013, RW_0335, RW_0275, RW_0132, RW_0273, RW_0662, RW_0108, RW_0045, RW_0599, RW_0183, RW_0170, RW_0124, RW_0079, RW_0306, RW_0665, RW_0028, RW_0652, RW_0156, RW_0033, RW_0581, RW_0144, RW_0063, RW_0234, RW_0535, RW_0550, RW_0139, RW_0213, RW_0630, RW_0344, RW_0162, RW_0532, RW_0047
Known GenesNEGR1
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)esv2764234
Frequency
Sample Size1109
Observed Gain1
Observed Loss148
Observed Complex0
Frequencyn/a


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