A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4185n100



Internal ID20155801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232363002..232444356hg38UCSC Ensembl
chr2:233227712..233309066hg19UCSC Ensembl
chr2:232935956..233017310hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3881355
hg1981355
hg1881355
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000316, nsv1000007, nsv1007866
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4185n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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