A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6949235



Internal ID9708309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46006515..46007259hg38UCSC Ensembl
Outerchr13:46580650..46581394hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747343, esv2747347, esv2747355
Supporting Variants
SamplesSSM024
Known GenesZC3H13
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)essv6949235
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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