A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6738810



Internal ID10150862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16037365..16060729hg38UCSC Ensembl
Outerchr1:16363860..16387224hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823365
hg1923365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741349
Supporting Variants
SamplesSSM052
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)essv6738810
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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