A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10481739



Internal ID3975406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43074757..43079008hg38UCSC Ensembl
Innerchr2:43074774..43078992hg38UCSC Ensembl
Outerchr2:43074741..43079025hg38UCSC Ensembl
chr2:43301895..43306146hg19UCSC Ensembl
Innerchr2:43301912..43306130hg19UCSC Ensembl
Outerchr2:43301879..43306163hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384252
hg194252
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590518
Supporting Variants
SamplesHG03629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10481739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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