A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704313



Internal ID10117363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42796878..42799298hg38UCSC Ensembl
Outerchr3:42838370..42840790hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382421
hg192421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725200
Supporting Variants
SamplesSSM040
Known GenesHIGD1A
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)essv6704313
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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