A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12410n54



Internal ID20145834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143533025..143611897hg38UCSC Ensembl
chr8:144615195..144694067hg19UCSC Ensembl
chr8:144686338..144765210hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3878873
hg1978873
hg1878873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612779, nsv612776
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, ZC3H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12410n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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