A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7348n54



Internal ID20140772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238115539..238174436hg38UCSC Ensembl
chr2:239024180..239083077hg19UCSC Ensembl
chr2:238688919..238747816hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3858898
hg1958898
hg1858898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584758, nsv584755
SamplesHGDP00546
Known GenesESPNL, ILKAP, KLHL30
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7348n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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