A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689692



Internal ID15095147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22508387..22511585hg38UCSC Ensembl
Innerchr15:22509387..22510585hg38UCSC Ensembl
Outerchr15:22507387..22512585hg38UCSC Ensembl
chr15:23361511..23364709hg19UCSC Ensembl
Innerchr15:23362511..23363709hg19UCSC Ensembl
Outerchr15:23360511..23365709hg19UCSC Ensembl
chr15:20912952..20916150hg18UCSC Ensembl
Innerchr15:20913952..20915150hg18UCSC Ensembl
Outerchr15:20911952..20917150hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3388685
Supporting Variants
SamplesNA19240
Known GenesHERC2P2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689692
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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