A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594113



Internal ID6981433
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10832993, essv10832994
SamplesHG01795, HG02410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594113
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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