A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6831198



Internal ID9659853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144611931..144612962hg38UCSC Ensembl
Outerchr8:145837316..145838347hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738082
Supporting Variants
SamplesSSM010
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)essv6831198
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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