A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1648n100



Internal ID20153264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48324814..48351221hg38UCSC Ensembl
chr13:48898950..48925357hg19UCSC Ensembl
chr13:47796951..47823358hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3826408
hg1926408
hg1826408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039312, nsv1038705
Samples
Known GenesRB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1648n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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