A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5996n100



Internal ID22792083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64783398..64990639hg38UCSC Ensembl
chr6:65493291..65700532hg19UCSC Ensembl
chr6:65550012..65757253hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38207242
hg19207242
hg18207242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1033186, nsv1017557
Samples
Known GenesEYS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5996n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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