A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747358



Internal ID9981642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46332764..46332889hg38UCSC Ensembl
Outerchr13:46906899..46907024hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977505, essv6966045, essv6851449, essv6673392, essv6819883, essv6857446, essv6867350, essv6862571
SamplesSSM027, SSM087, SSM088, SSM029, SSM089, SSM031, SSM086, SSM078
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)esv2747358
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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