A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738079



Internal ID9972418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144601465..144603135hg38UCSC Ensembl
Outerchr8:145826849..145828519hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381671
hg191671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1244e201
Supporting Variantsessv6935534, essv6841944, essv6919623, essv6716251, essv6838130
SamplesSSM084, SSM043, SSM083, SSM017, SSM021
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)esv2738079
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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