A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730898



Internal ID15011170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110031637..110031710hg38UCSC Ensembl
Innerchr6:110031673..110031674hg38UCSC Ensembl
Outerchr6:110031537..110031810hg38UCSC Ensembl
chr6:110352840..110352913hg19UCSC Ensembl
Innerchr6:110352876..110352877hg19UCSC Ensembl
Outerchr6:110352740..110353013hg19UCSC Ensembl
chr6:110459533..110459606hg18UCSC Ensembl
Innerchr6:110459570..110459569hg18UCSC Ensembl
Outerchr6:110459433..110459706hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302687
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730898
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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