A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594015



Internal ID6981336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203510583..203511712hg38UCSC Ensembl
Innerchr2:203510588..203511708hg38UCSC Ensembl
Outerchr2:203510579..203511717hg38UCSC Ensembl
chr2:204375306..204376435hg19UCSC Ensembl
Innerchr2:204375311..204376431hg19UCSC Ensembl
Outerchr2:204375302..204376440hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381130
hg191130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10825321, essv10825317, essv10825319, essv10825316, essv10825318, essv10825320
SamplesHG02769, NA19372, HG02588, HG03027, HG03240, HG03432
Known GenesRAPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594015
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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