A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727639



Internal ID10311275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56635499..56636018hg38UCSC Ensembl
Outerchr4:57501665..57502184hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38520
hg19520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860180, essv6810898, essv6899269, essv6711385, essv6825867, essv6718912, essv6893040, essv6674854, essv6878228, essv6742733, essv6683530, essv6707961, essv6881034, essv6956143, essv6722790, essv6869323, essv6704544, essv6864973, essv6962869, essv6833342, essv6889729, essv6730408, essv6942780, essv6973853, essv6745536, essv6854451, essv6951411, essv6689991
SamplesSSM100, SSM036, SSM027, SSM045, SSM087, SSM097, SSM093, SSM042, SSM088, SSM041, SSM023, SSM090, SSM047, SSM029, SSM026, SSM089, SSM094, SSM044, SSM040, SSM082, SSM053, SSM005, SSM080, SSM076, SSM055, SSM025, SSM034, SSM098
Known Genes
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)esv2727639
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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