A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4215n100



Internal ID22790302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:242049101..242147293hg38UCSC Ensembl
chr2:242991252..243089444hg19UCSC Ensembl
chr2:242639925..242738117hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3898193
hg1998193
hg1898193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008840, nsv1006525, nsv999243, nsv997800, nsv1001374, nsv1005086
Samples
Known GenesLOC728323
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4215n100
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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