A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9895651



Internal ID1881596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31397928..31399950hg38UCSC Ensembl
Innerchr1:31397957..31399922hg38UCSC Ensembl
Outerchr1:31397900..31399979hg38UCSC Ensembl
chr1:31870775..31872797hg19UCSC Ensembl
Innerchr1:31870804..31872769hg19UCSC Ensembl
Outerchr1:31870747..31872826hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382023
hg192023
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585649
Supporting Variants
SamplesHG01773
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9895651
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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