A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931247



Internal ID10039738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142520151..142520538hg38UCSC Ensembl
Outerchr8:143601512..143601899hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737908, esv2737907
Supporting Variants
SamplesSSM020
Known GenesBAI1
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)essv6931247
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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