A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741171



Internal ID10295287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16037348..16060698hg38UCSC Ensembl
Outerchr1:16363843..16387193hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823351
hg1923351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9e201
Supporting Variantsessv6718887
SamplesSSM007
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)esv2741171
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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