A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850173



Internal ID10248637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:56387654..56387748hg38UCSC Ensembl
Outerchr8:57300213..57300307hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737025, esv2737026
Supporting Variants
SamplesSSM086
Known GenesSDR16C6P
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)essv6850173
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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