A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760933



Internal ID10377240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:676334..874903hg38UCSC Ensembl
Innerchr5:676449..875018hg19UCSC Ensembl
Innerchr5:729449..928018hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38198570
hg19198570
hg18198570
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv131e203
Supporting Variantsessv7012421, essv7012402, essv7012392, essv7012457, essv7012461, essv7012407, essv7012398, essv7012417, essv7012408, essv7012500, essv7012472, essv7012465, essv7012427, essv7012424, essv7012394, essv7012432, essv7012463, essv7012397, essv7012434, essv7012420, essv7012482, essv7012492, essv7012470, essv7012487, essv7012419, essv7012390, essv7012481, essv7012391, essv7012385, essv7012453, essv7012395, essv7012425, essv7012437, essv7012490, essv7012450, essv7012414, essv7012459, essv7012438, essv7012493, essv7012396, essv7012494, essv7012412, essv7012480, essv7012448, essv7012436, essv7012454, essv7012406, essv7012475, essv7012469, essv7012489, essv7012502, essv7012471, essv7012387, essv7012443, essv7012479, essv7012484, essv7012435, essv7012440, essv7012491, essv7012483, essv7012428, essv7012473, essv7012485, essv7012460, essv7012496, essv7012405, essv7012467, essv7012418, essv7012462, essv7012478, essv7012403, essv7012389, essv7012429, essv7012476, essv7012430, essv7012393, essv7012441, essv7012386, essv7012474, essv7012401, essv7012426, essv7012439, essv7012442, essv7012503, essv7012451, essv7012449, essv7012486, essv7012400, essv7012404, essv7012446, essv7012431, essv7012447, essv7012456, essv7012415, essv7012423, essv7012409, essv7012495, essv7012416, essv7012464, essv7012445, essv7012498, essv7012497, essv7012468, essv7012413, essv7012501, essv7012458, essv7012452
SamplesRW_0356, RW_0203, RW_0087, RW_0292, RW_0553, RW_0329, RW_0520, RW_0256, RW_0093, RW_0582, RW_0359, RW_0268, RW_0178, RW_0090, RW_0650, RW_0322, RW_0134, RW_0330, RW_0629, RW_0586, RW_0012, RW_0255, RW_0254, RW_0549, RW_0510, RW_0049, RW_0174, RW_0113, RW_0100, RW_0003, RW_0136, RW_0512, RW_0267, RW_0074, RW_0230, RW_0506, RW_0558, RW_0631, RW_0577, RW_0519, RW_0147, RW_0651, RW_0103, RW_0004, RW_0602, RW_0637, RW_0600, RW_0005, RW_0197, RW_0094, RW_0531, RW_0311, RW_0279, RW_0596, RW_0176, RW_0601, RW_0655, RW_0611, RW_0593, RW_0250, RW_0288, RW_0664, RW_0653, RW_0597, RW_0020, RW_0252, RW_0633, RW_0201, RW_0289, RW_0053, RW_0667, RW_0316, RW_0308, RW_0078, RW_0527, RW_0195, RW_0120, RW_0032, RW_0166, RW_0073, RW_0663, RW_0562, RW_0529, RW_0186, RW_0013, RW_0232, RW_0589, RW_0275, RW_0132, RW_0273, RW_0119, RW_0238, RW_0149, RW_0170, RW_0050, RW_0028, RW_0209, RW_0144, RW_0184, RW_0057, RW_0508, RW_0266, RW_0207, RW_0248, RW_0041, RW_0139, RW_0213
Known GenesBRD9, TPPP, ZDHHC11
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)esv2760933
Frequency
Sample Size1109
Observed Gain76
Observed Loss31
Observed Complex0
Frequencyn/a


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