A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7127n54



Internal ID20140551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154746968..154764290hg38UCSC Ensembl
chr2:155603480..155620802hg19UCSC Ensembl
chr2:155311726..155329048hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3817323
hg1917323
hg1817323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583425, nsv583424
Samples
Known GenesKCNJ3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7127n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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