A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6691152



Internal ID9757569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144531264..144531437hg38UCSC Ensembl
Outerchr8:145756648..145756821hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738069, esv2738068
Supporting Variants
SamplesSSM036
Known GenesARHGAP39
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)essv6691152
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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