A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864196



Internal ID14645771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:136946651..136946666hg38UCSC Ensembl
Innerchr3:136946658..136946659hg38UCSC Ensembl
Outerchr3:136946644..136946673hg38UCSC Ensembl
chr3:136665493..136665508hg19UCSC Ensembl
Innerchr3:136665500..136665501hg19UCSC Ensembl
Outerchr3:136665486..136665515hg19UCSC Ensembl
chr3:138148183..138148198hg18UCSC Ensembl
Innerchr3:138148190..138148191hg18UCSC Ensembl
Outerchr3:138148176..138148205hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3419922
Supporting Variants
SamplesNA18961
Known GenesNCK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864196
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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