A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv117n54



Internal ID20133541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12775725..12858819hg38UCSC Ensembl
chr1:12835868..12918674hg19UCSC Ensembl
chr1:12758455..12841261hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3883095
hg1982807
hg1882807
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545452, nsv545456
SamplesHGDP01366, HGDP00007, 1780862077_A
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv117n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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