A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6906642



Internal ID9673874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2389243..2389336hg38UCSC Ensembl
Outerchr3:2430927..2431020hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724802, esv2724799, esv2724801, esv2724800
Supporting Variants
SamplesSSM014
Known GenesCNTN4
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)essv6906642
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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