A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890804



Internal ID18838420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180703656..181043092hg38UCSC Ensembl
Outerchr1:180703656..181043092hg38UCSC Ensembl
Innerchr1:180672792..181012228hg19UCSC Ensembl
Outerchr1:180672792..181012228hg19UCSC Ensembl
Innerchr1:178939415..179278851hg18UCSC Ensembl
Outerchr1:178939415..179278851hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38339437
hg19339437
hg18339437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787833
Samples
Known GenesKIAA1614, MR1, STX6, XPR1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890804
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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