A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557118



Internal ID18758194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45575848..45578554hg38UCSC Ensembl
Outerchr20:45575334..45578700hg38UCSC Ensembl
Innerchr20:44204487..44207193hg19UCSC Ensembl
Outerchr20:44203973..44207339hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383367
hg193367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755865
Samples
Known GenesWFDC8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557118
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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