A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612813



Internal ID6999713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35190458..35245048hg38UCSC Ensembl
chr7:35230070..35284660hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3854591
hg1954591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1280e214
Supporting Variantsessv12729496, essv12729526, essv12729498, essv12729509, essv12729520, essv12729502, essv12729515, essv12729518, essv12729521, essv12729497, essv12729504, essv12729505, essv12729512, essv12729517, essv12729510, essv12729508, essv12729531, essv12729525, essv12729527, essv12729492, essv12729533, essv12729524, essv12729532, essv12729500, essv12729491, essv12729514, essv12729506, essv12729507, essv12729494, essv12729528, essv12729493, essv12729503, essv12729522, essv12729499, essv12729516, essv12729523, essv12729501, essv12729519, essv12729495, essv12729511, essv12729529, essv12729530, essv12729534, essv12729513
SamplesNA12717, NA19909, HG03052, HG00559, HG02973, HG02691, HG03521, HG02734, HG03199, HG02792, HG03091, NA20287, HG01110, NA19038, HG00148, HG02642, HG03225, HG02477, HG02166, NA19043, HG02322, HG01607, HG03123, NA11840, HG03078, NA18946, NA19320, HG02724, HG00407, HG02455, NA19256, NA19331, HG00623, HG01357, HG01951, HG02274, NA19428, NA20803, HG03063, HG03060, HG03401, HG01883, HG02284, HG03198
Known GenesTBX20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612813
Frequency
Sample Size2504
Observed Gain44
Observed Loss0
Observed Complex0
Frequencyn/a


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