A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10010889



Internal ID12705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89251244..89261167hg38UCSC Ensembl
Innerchr1:89251244..89261167hg38UCSC Ensembl
Outerchr1:89250744..89261667hg38UCSC Ensembl
chr1:89716927..89726850hg19UCSC Ensembl
Innerchr1:89716927..89726850hg19UCSC Ensembl
Outerchr1:89716427..89727350hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg389924
hg199924
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586757
Supporting Variants
SamplesNA20894
Known GenesGBP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10010889
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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