A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718666



Internal ID9952958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47718718..47718899hg38UCSC Ensembl
Outerchr19:48221975..48222156hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905868
SamplesSSM013
Known GenesEHD2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2718666
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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