A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666493



Internal ID9733306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42740763..43026610hg38UCSC Ensembl
Outerchr19:43244915..43530762hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38285848
hg19285848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718593
Supporting Variants
SamplesSSM029
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7, PSG8
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)essv6666493
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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