A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11227970



Internal ID1229786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172638922..172643992hg38UCSC Ensembl
Innerchr3:172638969..172643946hg38UCSC Ensembl
Outerchr3:172638876..172644039hg38UCSC Ensembl
chr3:172356712..172361782hg19UCSC Ensembl
Innerchr3:172356759..172361736hg19UCSC Ensembl
Outerchr3:172356666..172361829hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg385071
hg195071
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598672
Supporting Variants
SamplesHG03868
Known GenesNCEH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11227970
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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