A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738085



Internal ID9972424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144612159..144612332hg38UCSC Ensembl
Outerchr8:145837544..145837717hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1245e201
Supporting Variantsessv6819061, essv6850344, essv6861740, essv6672281, essv6866473, essv6976154
SamplesSSM086, SSM078, SSM088, SSM089, SSM031, SSM029
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)esv2738085
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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