A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399585



Internal ID15246548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2630153..2631251hg38UCSC Ensembl
Innerchr1:2630251..2631153hg38UCSC Ensembl
Outerchr1:2629153..2632251hg38UCSC Ensembl
chr1:2561592..2562690hg19UCSC Ensembl
Innerchr1:2561690..2562592hg19UCSC Ensembl
Outerchr1:2560592..2563690hg19UCSC Ensembl
chr1:2551452..2552550hg18UCSC Ensembl
Innerchr1:2552452..2551550hg18UCSC Ensembl
Outerchr1:2550452..2553550hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19e59
Supporting Variantsessv8692247
SamplesNA19239
Known GenesMMEL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399585
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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