A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924523



Internal ID10033918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:80425895..80426275hg38UCSC Ensembl
Outerchr13:81000030..81000410hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747714, esv2747715
Supporting Variants
SamplesSSM018
Known Genes
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)essv6924523
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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