A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6746760



Internal ID9808094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71538269..71538739hg38UCSC Ensembl
Outerchr11:71249315..71249785hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744750, esv2744751
Supporting Variants
SamplesSSM055
Known GenesKRTAP5-8
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)essv6746760
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer