A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv137n100



Internal ID19010505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25256126..25351886hg38UCSC Ensembl
chr1:25582617..25678377hg19UCSC Ensembl
chr1:25455204..25550964hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3895761
hg1995761
hg1895761
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000921, nsv1008056, nsv1011077, nsv1009034, nsv1005580, nsv1004985, nsv1006789, nsv1012311, nsv1014586, nsv1007615
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)dgv137n100
Frequency
Sample Size29084
Observed Gain226
Observed Loss614
Observed Complex0
Frequencyn/a


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