A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691755



Internal ID14683529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1184609..1185007hg38UCSC Ensembl
Innerchr1:1184608..1185008hg38UCSC Ensembl
Outerchr1:1183609..1186007hg38UCSC Ensembl
chr1:1119989..1120387hg19UCSC Ensembl
Innerchr1:1119988..1120388hg19UCSC Ensembl
Outerchr1:1118989..1121387hg19UCSC Ensembl
chr1:1109852..1110250hg18UCSC Ensembl
Innerchr1:1110251..1109851hg18UCSC Ensembl
Outerchr1:1108852..1111250hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3335892
Supporting Variants
SamplesNA19238
Known GenesTTLL10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691755
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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