A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594076



Internal ID6981396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206996005..207004198hg38UCSC Ensembl
Innerchr2:206996055..207004148hg38UCSC Ensembl
Outerchr2:206995921..207004282hg38UCSC Ensembl
chr2:207860729..207868922hg19UCSC Ensembl
Innerchr2:207860779..207868872hg19UCSC Ensembl
Outerchr2:207860645..207869006hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388194
hg198194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10828829, essv10828827, essv10828830, essv10828828, essv10828826
SamplesNA11931, NA12287, NA18910, HG04159, HG03598
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594076
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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