A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6180n54



Internal ID18998356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1049468..1049989hg38UCSC Ensembl
chr19:1049467..1049988hg19UCSC Ensembl
chr19:1000467..1000988hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38522
hg19522
hg18522
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578193, nsv578201, nsv578194
Samples
Known GenesABCA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6180n54
Frequency
Sample Size17421
Observed Gain65
Observed Loss24
Observed Complex0
Frequencyn/a


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