A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340326



Internal ID15187313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82401405..82401419hg38UCSC Ensembl
Innerchr4:82401403..82401419hg38UCSC Ensembl
Outerchr4:82401389..82401435hg38UCSC Ensembl
chr4:83322558..83322572hg19UCSC Ensembl
Innerchr4:83322556..83322572hg19UCSC Ensembl
Outerchr4:83322542..83322588hg19UCSC Ensembl
chr4:83541582..83541596hg18UCSC Ensembl
Innerchr4:83541596..83541580hg18UCSC Ensembl
Outerchr4:83541566..83541612hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38152
hg19152
hg18152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8919737, essv8919731, essv8919742, essv8919734, essv8919741, essv8919740, essv8919732, essv8919743, essv8919735, essv8919738, essv8919739, essv8919733
SamplesNA18603, NA19190, NA18519, NA18498, NA18964, NA19099, NA18555, NA18523, NA18961, NA18501, NA07000, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340326
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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