A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737992



Internal ID10321628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143316040..143317026hg38UCSC Ensembl
Outerchr8:144398210..144399196hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38987
hg19987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856345, essv6749281, essv6935525, essv6870347, essv6760591, essv6958317, essv6708020, essv6861732, essv6866463, essv6672269, essv6755117, essv6765453, essv6757879, essv6976135, essv6734842, essv6667950, essv6850334, essv6752169, essv6819052
SamplesSSM059, SSM087, SSM088, SSM057, SSM058, SSM090, SSM021, SSM061, SSM029, SSM026, SSM089, SSM031, SSM086, SSM006, SSM078, SSM049, SSM056, SSM030, SSM063
Known GenesTOP1MT
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)esv2737992
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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