A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775218



Internal ID10181179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143014621..143014907hg38UCSC Ensembl
Outerchr8:144096038..144096324hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737945, esv2737946
Supporting Variants
SamplesSSM066
Known GenesLOC100133669
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)essv6775218
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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