A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742343



Internal ID10296459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16037118..16060474hg38UCSC Ensembl
Outerchr1:16363613..16386969hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823357
hg1923357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9e201
Supporting Variantsessv6853236
SamplesSSM087
Known GenesCLCNKB, FAM131C
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)esv2742343
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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