A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9961358



Internal ID3141203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69530676..69537049hg38UCSC Ensembl
Innerchr1:69530676..69537049hg38UCSC Ensembl
Outerchr1:69530328..69537336hg38UCSC Ensembl
chr1:69996359..70002732hg19UCSC Ensembl
Innerchr1:69996359..70002732hg19UCSC Ensembl
Outerchr1:69996011..70003019hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386374
hg196374
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586332
Supporting Variants
SamplesHG02769
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9961358
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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