A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747313



Internal ID10328283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:42181895..42182032hg38UCSC Ensembl
Outerchr13:42756031..42756168hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966035, essv6867346, essv6862565, essv6857439, essv6959516
SamplesSSM027, SSM087, SSM088, SSM026, SSM089
Known GenesDGKH
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)esv2747313
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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