A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368203



Internal ID15215179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2630153..2631351hg38UCSC Ensembl
Innerchr1:2630351..2631153hg38UCSC Ensembl
Outerchr1:2629153..2632351hg38UCSC Ensembl
chr1:2561592..2562790hg19UCSC Ensembl
Innerchr1:2561790..2562592hg19UCSC Ensembl
Outerchr1:2560592..2563790hg19UCSC Ensembl
chr1:2551452..2552650hg18UCSC Ensembl
Innerchr1:2552452..2551650hg18UCSC Ensembl
Outerchr1:2550452..2553650hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19e59
Supporting Variantsessv8692248
SamplesNA19240
Known GenesMMEL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368203
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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