A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv576n100



Internal ID22786663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216461872..216481909hg38UCSC Ensembl
chr1:216635214..216655251hg19UCSC Ensembl
chr1:214701837..214721874hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3820038
hg1920038
hg1820038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004287, nsv999214
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv576n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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