A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv140n100



Internal ID19010508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25269444..25361785hg38UCSC Ensembl
chr1:25595935..25688276hg19UCSC Ensembl
chr1:25468522..25560863hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3892342
hg1992342
hg1892342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000220, nsv998813, nsv1000794, nsv1007888, nsv999620, nsv1014567, nsv999016, nsv1001739, nsv1007059, nsv1005890, nsv1011005, nsv1000590
Samples
Known GenesRHD, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv140n100
Frequency
Sample Size29084
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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