A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3845n100



Internal ID22789932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53992912..54487416hg38UCSC Ensembl
chr2:54220049..54714553hg19UCSC Ensembl
chr2:54073553..54568057hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38494505
hg19494505
hg18494505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011690, nsv1003205, nsv1011790
Samples
Known GenesACYP2, C2orf73, SPTBN1, TSPYL6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3845n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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