A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689572



Internal ID15019731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20504285..20505283hg38UCSC Ensembl
Innerchr15:20504284..20505284hg38UCSC Ensembl
Outerchr15:20503285..20506283hg38UCSC Ensembl
chr15:20709538..20710536hg19UCSC Ensembl
Innerchr15:20709537..20710537hg19UCSC Ensembl
Outerchr15:20708538..20711536hg19UCSC Ensembl
chr15:18969552..18970550hg18UCSC Ensembl
Innerchr15:18970551..18969551hg18UCSC Ensembl
Outerchr15:18968552..18971550hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381560
Supporting Variants
SamplesNA19238
Known GenesHERC2P3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689572
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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