A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652044



Internal ID15101349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154713961..154714764hg38UCSC Ensembl
Innerchr1:154713961..154714764hg38UCSC Ensembl
Outerchr1:154713701..154714985hg38UCSC Ensembl
chr1:154686437..154687240hg19UCSC Ensembl
Innerchr1:154686437..154687240hg19UCSC Ensembl
Outerchr1:154686177..154687461hg19UCSC Ensembl
chr1:152953061..152953864hg18UCSC Ensembl
Innerchr1:152953061..152953864hg18UCSC Ensembl
Outerchr1:152952801..152954085hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38804
hg19804
hg18804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435288
Supporting Variants
SamplesNA19240
Known GenesKCNN3
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652044
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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