A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753832



Internal ID10162463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168749425..168749930hg38UCSC Ensembl
Outerchr2:169605935..169606440hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721107
Supporting Variants
SamplesSSM058
Known GenesCERS6
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)essv6753832
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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