A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591201



Internal ID6978529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70157241..70159387hg38UCSC Ensembl
Innerchr2:70157282..70159346hg38UCSC Ensembl
Outerchr2:70157200..70159428hg38UCSC Ensembl
chr2:70384373..70386519hg19UCSC Ensembl
Innerchr2:70384414..70386478hg19UCSC Ensembl
Outerchr2:70384332..70386560hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382147
hg192147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10536670
SamplesHG01197
Known GenesC2orf42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591201
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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