A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741605



Internal ID10295721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16037119..16060492hg38UCSC Ensembl
Outerchr1:16363614..16386987hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823374
hg1923374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9e201
Supporting Variantsessv6766537
SamplesSSM064
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)esv2741605
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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