A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557103



Internal ID18758179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43640203..43645860hg38UCSC Ensembl
Outerchr20:43639861..43645990hg38UCSC Ensembl
Innerchr20:42268843..42274500hg19UCSC Ensembl
Outerchr20:42268501..42274630hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg386130
hg196130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755850
Samples
Known GenesIFT52
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557103
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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