A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761101



Internal ID10377408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144173412..144392386hg38UCSC Ensembl
Innerchr7:143870505..144089479hg19UCSC Ensembl
Innerchr7:143501438..143720412hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38218975
hg19218975
hg18218975
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv152e203
Supporting Variantsessv7015459, essv7015526, essv7015477, essv7015462, essv7015451, essv7015490, essv7015468, essv7015516, essv7015472, essv7015505, essv7015517, essv7015454, essv7015528, essv7015486, essv7015502, essv7015449, essv7015498, essv7015464, essv7015465, essv7015529, essv7015513, essv7015506, essv7015444, essv7015446, essv7015496, essv7015503, essv7015453, essv7015480, essv7015463, essv7015461, essv7015507, essv7015484, essv7015521, essv7015504, essv7015455, essv7015452, essv7015493, essv7015510, essv7015487, essv7015520, essv7015499, essv7015470, essv7015471, essv7015479, essv7015519, essv7015474, essv7015525, essv7015482, essv7015475, essv7015448, essv7015491, essv7015524, essv7015512, essv7015488, essv7015458, essv7015518, essv7015466, essv7015485, essv7015527, essv7015514, essv7015483, essv7015495, essv7015481, essv7015442, essv7015501, essv7015515, essv7015443, essv7015494, essv7015497, essv7015460, essv7015447, essv7015509, essv7015457, essv7015440, essv7015476, essv7015469, essv7015473, essv7015450, essv7015492, essv7015441, essv7015508
SamplesRW_0208, RW_0123, RW_0635, RW_0071, RW_0237, RW_0148, RW_0305, RW_0158, RW_0058, RW_0010, RW_0582, RW_0268, RW_0258, RW_0606, RW_0656, RW_0243, RW_0629, RW_0586, RW_0181, RW_0255, RW_0549, RW_0334, RW_0510, RW_0062, RW_0615, RW_0218, RW_0136, RW_0353, RW_0592, RW_0111, RW_0558, RW_0122, RW_0118, RW_0659, RW_0651, RW_0103, RW_0065, RW_0648, RW_0608, RW_0618, RW_0176, RW_0601, RW_0346, RW_0085, RW_0177, RW_0250, RW_0257, RW_0607, RW_0252, RW_0524, RW_0212, RW_0260, RW_0571, RW_0036, RW_0067, RW_0249, RW_0320, RW_0527, RW_0278, RW_0080, RW_0669, RW_0589, RW_0275, RW_0662, RW_0119, RW_0108, RW_0574, RW_0128, RW_0599, RW_0014, RW_0646, RW_0652, RW_0156, RW_0581, RW_0361, RW_0191, RW_0167, RW_0535, RW_0573, RW_0336, RW_0532
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
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)esv2761101
Frequency
Sample Size1109
Observed Gain44
Observed Loss37
Observed Complex0
Frequencyn/a


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