A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721176



Internal ID10304812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177349920..177350191hg38UCSC Ensembl
Outerchr2:178214648..178214919hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914345
SamplesSSM016
Known GenesLOC100130691
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)esv2721176
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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