A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9996333



Internal ID5895840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83473259..83489672hg38UCSC Ensembl
Innerchr1:83473259..83489672hg38UCSC Ensembl
Outerchr1:83472759..83490172hg38UCSC Ensembl
chr1:83938942..83955355hg19UCSC Ensembl
Innerchr1:83938942..83955355hg19UCSC Ensembl
Outerchr1:83938442..83955855hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3816414
hg1916414
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586645
Supporting Variants
SamplesNA19316
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9996333
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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