A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689701



Internal ID15054596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22480287..22481985hg38UCSC Ensembl
Innerchr15:22480985..22481287hg38UCSC Ensembl
Outerchr15:22479287..22482985hg38UCSC Ensembl
chr15:23391111..23392809hg19UCSC Ensembl
Innerchr15:23391809..23392111hg19UCSC Ensembl
Outerchr15:23390111..23393809hg19UCSC Ensembl
chr15:20942552..20944250hg18UCSC Ensembl
Innerchr15:20943552..20943250hg18UCSC Ensembl
Outerchr15:20941552..20945250hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3423785
Supporting Variants
SamplesNA19239
Known GenesHERC2P7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689701
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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