A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738070



Internal ID9972409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144531266..144532001hg38UCSC Ensembl
Outerchr8:145756650..145757385hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1242e201
Supporting Variantsessv6782988, essv6958333, essv6856357, essv6743650, essv6884746, essv6672280, essv6850343, essv6884745, essv6958332
SamplesSSM087, SSM026, SSM031, SSM086, SSM068, SSM053, SSM095
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)esv2738070
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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