A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6936300



Internal ID9698678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41131549..41193443hg38UCSC Ensembl
Outerchr13:41705685..41767579hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3861895
hg1961895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747299
Supporting Variants
SamplesSSM021
Known GenesKBTBD6, KBTBD7
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)essv6936300
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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