A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689570



Internal ID15054017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20493985..20497883hg38UCSC Ensembl
Innerchr15:20494985..20496883hg38UCSC Ensembl
Outerchr15:20492985..20498883hg38UCSC Ensembl
chr15:20699238..20703136hg19UCSC Ensembl
Innerchr15:20700238..20702136hg19UCSC Ensembl
Outerchr15:20698238..20704136hg19UCSC Ensembl
chr15:18959252..18963150hg18UCSC Ensembl
Innerchr15:18960252..18962150hg18UCSC Ensembl
Outerchr15:18958252..18964150hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg383899
hg193899
hg183899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3344113
Supporting Variants
SamplesNA19239
Known GenesHERC2P3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689570
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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