A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692246



Internal ID13390182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25283574..25287772hg38UCSC Ensembl
Innerchr1:25284574..25286772hg38UCSC Ensembl
Outerchr1:25282574..25288772hg38UCSC Ensembl
chr1:25610065..25614263hg19UCSC Ensembl
Innerchr1:25611065..25613263hg19UCSC Ensembl
Outerchr1:25609065..25615263hg19UCSC Ensembl
chr1:25482652..25486850hg18UCSC Ensembl
Innerchr1:25483652..25485850hg18UCSC Ensembl
Outerchr1:25481652..25487850hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384199
hg194199
hg184199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3375696
Supporting Variants
SamplesNA12892
Known GenesRHD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692246
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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