A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv308n100



Internal ID22786395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121413668..121602283hg38UCSC Ensembl
chr1:121155528..121344081hg19UCSC Ensembl
chr1:120857051..121045604hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38188616
hg19188554
hg18188554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001750, nsv1000212, nsv1001816, nsv1014320, nsv1004068, nsv1009403, nsv1014350, nsv1006385, nsv998860, nsv1010551
Samples
Known GenesEMBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv308n100
Frequency
Sample Size11257
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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