A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv130n54



Internal ID22768025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12834668..12864107hg38UCSC Ensembl
chr1:12894519..12923962hg19UCSC Ensembl
chr1:12817106..12846549hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3829440
hg1929444
hg1829444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545506, nsv545507
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv130n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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