A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593699



Internal ID6981022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187936065..188098765hg38UCSC Ensembl
Innerchr2:187936065..188098765hg38UCSC Ensembl
Outerchr2:187935565..188099265hg38UCSC Ensembl
chr2:188800792..188963492hg19UCSC Ensembl
Innerchr2:188800792..188963492hg19UCSC Ensembl
Outerchr2:188800292..188963992hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38162701
hg19162701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10791735
SamplesNA20534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593699
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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