A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850344



Internal ID9902105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144612200..144612299hg38UCSC Ensembl
Outerchr8:145837585..145837684hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738085, esv2738087, esv2738082
Supporting Variants
SamplesSSM086
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)essv6850344
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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