A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731675



Internal ID15087865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:35772672..35772758hg38UCSC Ensembl
Innerchr4:35772714..35772715hg38UCSC Ensembl
Outerchr4:35772572..35772858hg38UCSC Ensembl
chr4:35774294..35774380hg19UCSC Ensembl
Innerchr4:35774336..35774337hg19UCSC Ensembl
Outerchr4:35774194..35774480hg19UCSC Ensembl
chr4:35450689..35450775hg18UCSC Ensembl
Innerchr4:35450732..35450731hg18UCSC Ensembl
Outerchr4:35450589..35450875hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302543
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731675
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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