A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740810



Internal ID10294926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16037347..16060662hg38UCSC Ensembl
Outerchr1:16363842..16387157hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823316
hg1923316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9e201
Supporting Variantsessv6675201
SamplesSSM032
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)esv2740810
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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