A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594261



Internal ID6981581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214512657..214514559hg38UCSC Ensembl
Innerchr2:214512657..214514559hg38UCSC Ensembl
Outerchr2:214512436..214514657hg38UCSC Ensembl
chr2:215377381..215379283hg19UCSC Ensembl
Innerchr2:215377381..215379283hg19UCSC Ensembl
Outerchr2:215377160..215379381hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381903
hg191903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10843559, essv10843558, essv10843556, essv10843557, essv10843543, essv10843552, essv10843547, essv10843555, essv10843550, essv10843546, essv10843553, essv10843551, essv10843544, essv10843549, essv10843545, essv10843554, essv10843548
SamplesHG02610, HG03052, HG03517, NA19355, NA19377, NA19307, HG02922, HG02427, NA19451, HG02819, HG02582, NA19031, HG02722, NA19309, HG02546, HG02317, HG02771
Known GenesVWC2L, VWC2L-IT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594261
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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