A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2397n54



Internal ID22770292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19309924..19432926hg38UCSC Ensembl
chr12:19462858..19585860hg19UCSC Ensembl
chr12:19354125..19477127hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38123003
hg19123003
hg18123003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557678, nsv557692, nsv557695, nsv557691, nsv557686, nsv557689, nsv557694, nsv557688, nsv557687, nsv557693, nsv557679, nsv557680, nsv557685, nsv557690
SamplesHGDP01385, NINDS_18, 1798860210_A, 1780854219_A, 1782681091_A, HGDP01279, 1780854202_A, 1780862373_A, 1780862111_A, NINDS_181
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2397n54
Frequency
Sample Size17421
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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