A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4182n100



Internal ID20155798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232339649..232445348hg38UCSC Ensembl
chr2:233204359..233310058hg19UCSC Ensembl
chr2:232912603..233018302hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38105700
hg19105700
hg18105700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012157, nsv1005447, nsv1000609, nsv1004691, nsv1000369, nsv1002951, nsv1003202
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4182n100
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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