A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591653



Internal ID6978981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94764440..94772804hg38UCSC Ensembl
Innerchr2:94764940..94772304hg38UCSC Ensembl
Outerchr2:94763440..94773804hg38UCSC Ensembl
chr2:95430185..95438549hg19UCSC Ensembl
Innerchr2:95430685..95438049hg19UCSC Ensembl
Outerchr2:95429185..95439549hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg388365
hg198365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10587500, essv10587499
SamplesNA19081, NA19065
Known GenesANKRD20A8P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591653
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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