A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10169995



Internal ID5971792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162450923..162457517hg38UCSC Ensembl
Innerchr1:162450977..162457464hg38UCSC Ensembl
Outerchr1:162450870..162457571hg38UCSC Ensembl
chr1:162420713..162427307hg19UCSC Ensembl
Innerchr1:162420767..162427254hg19UCSC Ensembl
Outerchr1:162420660..162427361hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386595
hg196595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587748
Supporting Variants
SamplesNA19380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10169995
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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