A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387232



Internal ID15234201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37330735..37331633hg38UCSC Ensembl
Innerchr4:37330734..37331634hg38UCSC Ensembl
Outerchr4:37329735..37332633hg38UCSC Ensembl
chr4:37332357..37333255hg19UCSC Ensembl
Innerchr4:37332356..37333256hg19UCSC Ensembl
Outerchr4:37331357..37334255hg19UCSC Ensembl
chr4:37008752..37009650hg18UCSC Ensembl
Innerchr4:37009651..37008751hg18UCSC Ensembl
Outerchr4:37007752..37010650hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2960e59
Supporting Variantsessv8694405
SamplesNA19239
Known GenesKIAA1239
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387232
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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