A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5707n100



Internal ID19016075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80559891..80584622hg38UCSC Ensembl
chr5:79855710..79880441hg19UCSC Ensembl
chr5:79891466..79916197hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3824732
hg1924732
hg1824732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029820, nsv1020051, nsv1027663
Samples
Known GenesANKRD34B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5707n100
Frequency
Sample Size29084
Observed Gain57
Observed Loss0
Observed Complex0
Frequencyn/a


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