A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594011



Internal ID6981332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203297716..203298656hg38UCSC Ensembl
Innerchr2:203297736..203298637hg38UCSC Ensembl
Outerchr2:203297697..203298676hg38UCSC Ensembl
chr2:204162439..204163379hg19UCSC Ensembl
Innerchr2:204162459..204163360hg19UCSC Ensembl
Outerchr2:204162420..204163399hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38941
hg19941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10825294
SamplesHG01277
Known GenesCYP20A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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