A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738071



Internal ID9972410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144531781..144532004hg38UCSC Ensembl
Outerchr8:145757165..145757388hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1243e201
Supporting Variantsessv6819060, essv6958333, essv6803107, essv6939794, essv6791304, essv6915682, essv6927469, essv6967140, essv6861409, essv6681102, essv6887601, essv6705737, essv6734432, essv6672280
SamplesSSM022, SSM007, SSM033, SSM040, SSM078, SSM031, SSM016, SSM011, SSM073, SSM019, SSM096, SSM004, SSM026, SSM070
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)esv2738071
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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