A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv92n100



Internal ID20151708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16684943..17003642hg38UCSC Ensembl
chr1:17011438..17330137hg19UCSC Ensembl
chr1:16884025..17202724hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38318700
hg19318700
hg18318700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001726, nsv1003274, nsv1008435
Samples
Known GenesATP13A2, CROCC, ESPNP, LOC729574, MFAP2, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv92n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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