A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6756n54



Internal ID20140180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33540105..33541997hg38UCSC Ensembl
chr2:33765172..33767064hg19UCSC Ensembl
chr2:33618676..33620568hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381893
hg191893
hg181893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581325, nsv581313, nsv581317, nsv581328, nsv581321, nsv581330
Samples
Known GenesRASGRP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6756n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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