A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942448



Internal ID10050967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52781084..52781417hg38UCSC Ensembl
Outerchr3:52815100..52815433hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725279
Supporting Variants
SamplesSSM023
Known GenesITIH1
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)essv6942448
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