A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5637n100



Internal ID19016005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42609988..42844089hg38UCSC Ensembl
chr5:42610090..42844191hg19UCSC Ensembl
chr5:42645847..42879948hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38234102
hg19234102
hg18234102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019696, nsv1031160
Samples
Known GenesCCDC152, GHR, SEPP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5637n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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