A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737734



Internal ID10321370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139936827..139937019hg38UCSC Ensembl
Outerchr8:140949068..140949302hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38193
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6823083, essv6861716, essv6771521, essv6948501, essv6801488, essv6915660, essv6701849, essv6838094, essv6698390, essv6734288, essv6900227, essv6672231, essv6976110, essv6881946, essv6887579, essv6795440, essv6894142, essv6873296, essv6782951, essv6894160, essv6720152, essv6787164, essv6904401, essv6731561, essv6927442, essv6912032, essv6939765, essv6791264, essv6845527, essv6805969, essv6814967, essv6856325, essv6879105, essv6964865, essv6970164, essv6850303
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM093, SSM074, SSM088, SSM028, SSM047, SSM069, SSM029, SSM096, SSM019, SSM094, SSM031, SSM044, SSM086, SSM085, SSM068, SSM007, SSM015, SSM016, SSM077, SSM022, SSM091, SSM070, SSM098, SSM012
Known GenesTRAPPC9
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)esv2737734
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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