A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900977



Internal ID10012220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:73956842..73957352hg38UCSC Ensembl
Outerchr13:74530979..74531489hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747648
Supporting Variants
SamplesSSM012
Known GenesKLF12
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)essv6900977
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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