A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735246



Internal ID9969576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141414064..141414373hg38UCSC Ensembl
Outerchr7:141113864..141114173hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890528, essv6943838, essv6774896, essv6861316, essv6799240, essv6866030, essv6957614, essv6964311, essv6899989, essv6907958, essv6975433, essv6826775, essv6795037, essv6684323, essv6873055, essv6893864, essv6687567, essv6727478, essv6887301, essv6822781, essv6897025, essv6969777, essv6708738, essv6731224, essv6849704
SamplesSSM027, SSM086, SSM091, SSM099, SSM088, SSM089, SSM035, SSM072, SSM071, SSM097, SSM041, SSM100, SSM066, SSM028, SSM029, SSM047, SSM034, SSM046, SSM096, SSM023, SSM079, SSM026, SSM014, SSM098, SSM080
Known GenesTMEM178B
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)esv2735246
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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