A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731182



Internal ID9965499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176859514..176859803hg38UCSC Ensembl
Outerchr5:176286515..176286804hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6770670, essv6730758, essv6708304, essv6774504, essv6790381, essv6794524, essv6814211, essv6694027, essv6956791, essv6841121, essv6951747, essv6676427, essv6723111, essv6700924, essv6798712, essv6969236, essv6833657, essv6683893, essv6715385, essv6719291, essv6680279, essv6963515, essv6826260, essv6782065, essv6822336, essv6778058, essv6886915, essv6786263
SamplesSSM071, SSM027, SSM045, SSM079, SSM065, SSM039, SSM041, SSM028, SSM084, SSM047, SSM069, SSM096, SSM026, SSM032, SSM067, SSM044, SSM033, SSM066, SSM068, SSM072, SSM082, SSM080, SSM037, SSM077, SSM070, SSM025, SSM034, SSM043
Known GenesUNC5A
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)esv2731182
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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