A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890638



Internal ID19184722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151412235..151435216hg38UCSC Ensembl
Outerchr1:151398829..151435216hg38UCSC Ensembl
Innerchr1:151384711..151407692hg19UCSC Ensembl
Outerchr1:151371305..151407692hg19UCSC Ensembl
Innerchr1:149651335..149674316hg18UCSC Ensembl
Outerchr1:149637929..149674316hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3836388
hg1936388
hg1836388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787794, essv25788267
Samples
Known GenesPOGZ, PSMB4
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890638
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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