A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6687775



Internal ID9754996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19197756..19198037hg38UCSC Ensembl
Outerchr8:19055266..19055547hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736711, esv2736710
Supporting Variants
SamplesSSM035
Known GenesLOC100128993
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)essv6687775
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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