A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838097



Internal ID9891272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141335488..141335726hg38UCSC Ensembl
Outerchr8:142345587..142345825hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737778, esv2737756, esv2737771
Supporting Variants
SamplesSSM083
Known Genes
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)essv6838097
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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