A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7339n54



Internal ID20140763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233333701..233379402hg38UCSC Ensembl
chr2:234242347..234288048hg19UCSC Ensembl
chr2:233907086..233952787hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3845702
hg1945702
hg1845702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584701, nsv584702
Samples1780862415_A, 1780862093_A
Known GenesDGKD, SAG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7339n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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