A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10496140



Internal ID4325037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48860663..48912705hg38UCSC Ensembl
Innerchr2:48860711..48912658hg38UCSC Ensembl
Outerchr2:48860616..48912753hg38UCSC Ensembl
chr2:49087802..49139844hg19UCSC Ensembl
Innerchr2:49087850..49139797hg19UCSC Ensembl
Outerchr2:49087755..49139892hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3852043
hg1952043
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590667
Supporting Variants
SamplesHG03871
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10496140
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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