A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7239n100



Internal ID22793326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72681446..72729534hg38UCSC Ensembl
chr8:73593681..73641769hg19UCSC Ensembl
chr8:73756235..73804323hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3848089
hg1948089
hg1848089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015466, nsv1022787, nsv1033339, nsv1028207, nsv1023771, nsv1023508, nsv1017494, nsv1026731
Samples
Known GenesKCNB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7239n100
Frequency
Sample Size11257
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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