A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589695



Internal ID6629984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4997286..4999508hg38UCSC Ensembl
Innerchr2:4997289..4999506hg38UCSC Ensembl
Outerchr2:4997284..4999511hg38UCSC Ensembl
chr2:5137419..5139641hg19UCSC Ensembl
Innerchr2:5137422..5139639hg19UCSC Ensembl
Outerchr2:5137417..5139644hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg382223
hg192223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10400390, essv10400426, essv10400421, essv10400409, essv10400424, essv10400398, essv10400396, essv10400403, essv10400394, essv10400391, essv10400419, essv10400395, essv10400411, essv10400408, essv10400407, essv10400397, essv10400383, essv10400377, essv10400378, essv10400400, essv10400386, essv10400428, essv10400399, essv10400410, essv10400402, essv10400401, essv10400387, essv10400412, essv10400420, essv10400425, essv10400381, essv10400422, essv10400388, essv10400427, essv10400415, essv10400380, essv10400416, essv10400417, essv10400385, essv10400405, essv10400423, essv10400384, essv10400393, essv10400418, essv10400413, essv10400389, essv10400406, essv10400379, essv10400392, essv10400404, essv10400429, essv10400414, essv10400382
SamplesNA18502, NA19028, HG02944, HG03121, NA19466, NA18508, HG03247, HG03241, NA19092, HG03521, NA18878, HG03193, HG03069, HG02895, NA20359, NA18519, HG03385, NA19457, HG02922, HG02562, HG03189, NA19137, HG03045, NA19901, NA18520, HG02545, NA19908, HG03054, NA19391, NA19455, HG02953, HG03294, HG03024, HG03391, HG02594, NA18858, HG02255, NA19390, NA19256, NA19454, HG01915, HG03127, HG03304, HG02839, HG02317, NA19376, HG02970, NA19116, HG01914, NA19121, HG02284, HG01886, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589695
Frequency
Sample Size2504
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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