A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264981



Internal ID266797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201841402..201846376hg38UCSC Ensembl
Innerchr1:201841457..201846322hg38UCSC Ensembl
Outerchr1:201841348..201846431hg38UCSC Ensembl
chr1:201810530..201815504hg19UCSC Ensembl
Innerchr1:201810585..201815450hg19UCSC Ensembl
Outerchr1:201810476..201815559hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384975
hg194975
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588575
Supporting Variants
SamplesHG00403
Known GenesIPO9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264981
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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