A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv310n100



Internal ID22786397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121426988..121562494hg38UCSC Ensembl
chr1:121168848..121304292hg19UCSC Ensembl
chr1:120870371..121005815hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38135507
hg19135445
hg18135445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004927, nsv1002887
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)dgv310n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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