A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv89n100



Internal ID19010457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16684943..16767559hg38UCSC Ensembl
chr1:17011438..17094054hg19UCSC Ensembl
chr1:16884025..16966641hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3882617
hg1982617
hg1882617
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997279, nsv1008943, nsv1002602, nsv1010301
Samples
Known GenesESPNP, LOC729574, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv89n100
Frequency
Sample Size29084
Observed Gain17
Observed Loss10
Observed Complex0
Frequencyn/a


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