A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747300



Internal ID9981584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41156636..41156809hg38UCSC Ensembl
Outerchr13:41730772..41730945hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702597, essv6945104
SamplesSSM039, SSM023
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)esv2747300
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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