A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3867n100



Internal ID22789954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73612928..73684384hg38UCSC Ensembl
chr2:73840055..73911511hg19UCSC Ensembl
chr2:73693563..73765019hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3871457
hg1971457
hg1871457
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000057, nsv1013142, nsv1006033
Samples
Known GenesALMS1P, NAT8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3867n100
Frequency
Sample Size11257
Observed Gain11
Observed Loss3
Observed Complex0
Frequencyn/a


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