A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10832993



Internal ID1916484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208260275..208265133hg38UCSC Ensembl
Innerchr2:208260278..208265131hg38UCSC Ensembl
Outerchr2:208260273..208265136hg38UCSC Ensembl
chr2:209124999..209129857hg19UCSC Ensembl
Innerchr2:209125002..209129855hg19UCSC Ensembl
Outerchr2:209124997..209129860hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg384859
hg194859
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594113
Supporting Variants
SamplesHG01795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10832993
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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