A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6882461



Internal ID10277698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71553230..71553448hg38UCSC Ensembl
Outerchr13:72127362..72127580hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747607, esv2747610, esv2747603
Supporting Variants
SamplesSSM094
Known GenesDACH1
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)essv6882461
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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