A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955470



Internal ID10064296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174594599..174594832hg38UCSC Ensembl
Outerchr2:175459327..175459560hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721157, esv2721156
Supporting Variants
SamplesSSM026
Known GenesWIPF1
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)essv6955470
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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