A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946497



Internal ID10057460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16037341..16060689hg38UCSC Ensembl
Outerchr1:16363836..16387184hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823349
hg1923349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743116
Supporting Variants
SamplesSSM024
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)essv6946497
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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