A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747629



Internal ID10328599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:72382556..72382911hg38UCSC Ensembl
Outerchr13:72956694..72957049hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959564, essv6812348, essv6851479, essv6862600, essv6720860, essv6857482, essv6838788, essv6888130, essv6945137, essv6702634, essv6673431, essv6806514, essv6882462, essv6796207, essv6716978, essv6819916, essv6677990, essv6787938, essv6867298, essv6792025, essv6909050, essv6977552, essv6867380, essv6688428, essv6966092, essv6894812
SamplesSSM083, SSM071, SSM027, SSM011, SSM087, SSM039, SSM074, SSM088, SSM023, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM078, SSM076, SSM070, SSM043, 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)esv2747629
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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