A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597311



Internal ID3637442
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591763
Supporting Variants
SamplesHG03235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597311
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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