A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675654



Internal ID14700067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76072661..76072673hg38UCSC Ensembl
Innerchr4:76072652..76072682hg38UCSC Ensembl
Outerchr4:76072640..76072691hg38UCSC Ensembl
chr4:76993814..76993826hg19UCSC Ensembl
Innerchr4:76993805..76993835hg19UCSC Ensembl
Outerchr4:76993793..76993844hg19UCSC Ensembl
chr4:77212838..77212850hg18UCSC Ensembl
Innerchr4:77212859..77212829hg18UCSC Ensembl
Outerchr4:77212817..77212868hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3443367
Supporting Variants
SamplesNA19239
Known GenesART3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675654
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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