A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966030



Internal ID10070303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:39360090..39361535hg38UCSC Ensembl
Outerchr13:39934227..39935672hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381446
hg191446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747287
Supporting Variants
SamplesSSM027
Known GenesLHFP
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)essv6966030
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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