A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730842



Internal ID15011406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39326009..39326110hg38UCSC Ensembl
Innerchr20:39326059..39326060hg38UCSC Ensembl
Outerchr20:39325909..39326210hg38UCSC Ensembl
chr20:37954652..37954753hg19UCSC Ensembl
Innerchr20:37954702..37954703hg19UCSC Ensembl
Outerchr20:37954552..37954853hg19UCSC Ensembl
chr20:37388066..37388167hg18UCSC Ensembl
Innerchr20:37388117..37388116hg18UCSC Ensembl
Outerchr20:37387966..37388267hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38102
hg19102
hg18102
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302526
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730842
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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