A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591763



Internal ID6979091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101183116..101193978hg38UCSC Ensembl
Innerchr2:101183616..101193478hg38UCSC Ensembl
Outerchr2:101182116..101194978hg38UCSC Ensembl
chr2:101799578..101810440hg19UCSC Ensembl
Innerchr2:101800078..101809940hg19UCSC Ensembl
Outerchr2:101798578..101811440hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3810863
hg1910863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10597310, essv10597311
SamplesHG03235, HG02597
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591763
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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