A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682562



Internal ID9748599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35045483..35045970hg38UCSC Ensembl
Outerchr19:35536387..35536874hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718489
Supporting Variants
SamplesSSM033
Known GenesHPN
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)essv6682562
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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