A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7254n54



Internal ID22775149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203027647..203038897hg38UCSC Ensembl
chr2:203892370..203903620hg19UCSC Ensembl
chr2:203600615..203611865hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3811251
hg1911251
hg1811251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584184, nsv584186, nsv584183, nsv584185
Samples
Known GenesNBEAL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7254n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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