A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738068



Internal ID9972407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144531049..144531920hg38UCSC Ensembl
Outerchr8:145756433..145757304hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38872
hg19872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1242e201
Supporting Variantsessv6782988, essv6677287, essv6856357, essv6976153, essv6819059, essv6731588, essv6743650, essv6964908, essv6689043, essv6691152, essv6850343, essv6884745, essv6958332, essv6866472
SamplesSSM036, SSM027, SSM087, SSM047, SSM029, SSM026, SSM089, SSM032, SSM001, SSM086, SSM068, SSM078, 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)esv2738068
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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