A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9972393



Internal ID560517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72545350..72627444hg38UCSC Ensembl
Innerchr1:72545350..72627444hg38UCSC Ensembl
Outerchr1:72545156..72627628hg38UCSC Ensembl
chr1:73011033..73093127hg19UCSC Ensembl
Innerchr1:73011033..73093127hg19UCSC Ensembl
Outerchr1:73010839..73093311hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3882095
hg1982095
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586417
Supporting Variants
SamplesHG00244
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9972393
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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