A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3871n100



Internal ID20155487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74729834..74952544hg38UCSC Ensembl
chr2:74956961..75179671hg19UCSC Ensembl
chr2:74810469..75033179hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38222711
hg19222711
hg18222711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013903, nsv998639
Samples
Known GenesHK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3871n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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