A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563704



Internal ID18418094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70302450..70302721hg38UCSC Ensembl
Outerchr1:70302389..70302790hg38UCSC Ensembl
Innerchr1:70768133..70768404hg19UCSC Ensembl
Outerchr1:70768072..70768473hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762451
Samples
Known GenesANKRD13C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563704
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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