A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721175



Internal ID10304811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176726638..176727057hg38UCSC Ensembl
Outerchr2:177591366..177591785hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714658
SamplesSSM043
Known Genes
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)esv2721175
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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