A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12200n54



Internal ID22780095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72705365..72736992hg38UCSC Ensembl
chr8:73617600..73649227hg19UCSC Ensembl
chr8:73780154..73811781hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3831628
hg1931628
hg1831628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611536, nsv611537
SamplesHGDP00886
Known GenesKCNB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12200n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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