A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596185



Internal ID6983502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54634673..54639981hg38UCSC Ensembl
Innerchr3:54634723..54639931hg38UCSC Ensembl
Outerchr3:54634565..54640089hg38UCSC Ensembl
chr3:54668700..54674008hg19UCSC Ensembl
Innerchr3:54668750..54673958hg19UCSC Ensembl
Outerchr3:54668592..54674116hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg385309
hg195309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11015524, essv11015515, essv11015504, essv11015498, essv11015511, essv11015507, essv11015514, essv11015525, essv11015519, essv11015506, essv11015509, essv11015522, essv11015505, essv11015516, essv11015520, essv11015518, essv11015499, essv11015523, essv11015529, essv11015500, essv11015517, essv11015503, essv11015501, essv11015528, essv11015510, essv11015527, essv11015526, essv11015508, essv11015512, essv11015502, essv11015513, essv11015497, essv11015521
SamplesNA20339, NA19066, HG03455, HG02888, HG03464, HG03168, NA19457, HG02703, HG03352, HG03343, HG03085, NA19000, NA18879, HG02577, NA20282, NA19338, HG03109, NA19436, HG03437, NA19473, HG01894, NA19380, HG02611, HG03433, NA19439, HG01108, HG03565, HG01912, NA19351, HG03077, NA19316, NA18511, HG01886
Known GenesCACNA2D3, ESRG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596185
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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