A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747340



Internal ID9981624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45314419..45314857hg38UCSC Ensembl
Outerchr13:45888554..45888992hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862570, essv6891407, essv6977503, essv6945112, essv6909629, essv6746958, essv6857445, essv6812331, essv6783715, essv6668298, essv6894790, essv6787909, essv6755688, essv6916270
SamplesSSM087, SSM097, SSM088, SSM002, SSM023, SSM058, SSM069, SSM029, SSM068, SSM016, SSM076, SSM055, SSM098, SSM030
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)esv2747340
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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