A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720557



Internal ID10304193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113979128..113979527hg38UCSC Ensembl
Outerchr2:114736705..114737104hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781259
SamplesSSM068
Known GenesLOC100499194
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)esv2720557
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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