A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738069



Internal ID9972408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144531253..144531439hg38UCSC Ensembl
Outerchr8:145756637..145756823hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819059, essv6856357, essv6958332, essv6677287, essv6782988, essv6976153, essv6850343, essv6691152, essv6866472, essv6964908
SamplesSSM027, SSM086, SSM036, SSM078, SSM089, SSM032, SSM029, SSM087, SSM068, SSM026
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)esv2738069
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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