A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689573



Internal ID15054031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20504285..20505783hg38UCSC Ensembl
Innerchr15:20504783..20505285hg38UCSC Ensembl
Outerchr15:20503285..20506783hg38UCSC Ensembl
chr15:20709538..20711036hg19UCSC Ensembl
Innerchr15:20710036..20710538hg19UCSC Ensembl
Outerchr15:20708538..20712036hg19UCSC Ensembl
chr15:18969552..18971050hg18UCSC Ensembl
Innerchr15:18970552..18970050hg18UCSC Ensembl
Outerchr15:18968552..18972050hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413344
Supporting Variants
SamplesNA19239
Known GenesHERC2P3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689573
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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