A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8214n54



Internal ID22776109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8779046..8821239hg38UCSC Ensembl
chr3:8820732..8862925hg19UCSC Ensembl
chr3:8795732..8837925hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3842194
hg1942194
hg1842194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589626, nsv589632, nsv589635, nsv589639, nsv589627, nsv589625, nsv589631, nsv589624, nsv589621, nsv589640, nsv589629, nsv589623, nsv589620, nsv589622, nsv589636, nsv589630, nsv589637, nsv589628
SamplesHGDP00143, HGDP01380, 1780862530_A, 1780854401_A, HGDP00092, 1780854219_A, 1780862521_A, 1780862275_A, NINDS_94, HGDP00072, HGDP00891, NINDS_124, 1780854118_A, HGDP00084, NINDS_51, HGDP00882, NINDS_193, NINDS_102, HGDP00148, NINDS_200, 1780862578_A, HGDP01400, 1780862089_A, HGDP00584, NINDS_73, HGDP00341, NINDS_12
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8214n54
Frequency
Sample Size17421
Observed Gain48
Observed Loss0
Observed Complex0
Frequencyn/a


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