A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748085



Internal ID10157062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:139229806..139230245hg38UCSC Ensembl
Outerchr2:139987376..139987815hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720886, esv2720880
Supporting Variants
SamplesSSM056
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)essv6748085
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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