A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742822



Internal ID10296938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16037333..16060715hg38UCSC Ensembl
Outerchr1:16363828..16387210hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823383
hg1923383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9e201
Supporting Variantsessv6916684
SamplesSSM003
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)esv2742822
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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