A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6182n54



Internal ID18998358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1049519..1049830hg38UCSC Ensembl
chr19:1049518..1049829hg19UCSC Ensembl
chr19:1000518..1000829hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38312
hg19312
hg18312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578198, nsv578197, nsv578205
Samples
Known GenesABCA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6182n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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