A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692371



Internal ID15111635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53555591..53557389hg38UCSC Ensembl
Innerchr1:53556389..53556591hg38UCSC Ensembl
Outerchr1:53554591..53558389hg38UCSC Ensembl
chr1:54021264..54023062hg19UCSC Ensembl
Innerchr1:54022062..54022264hg19UCSC Ensembl
Outerchr1:54020264..54024062hg19UCSC Ensembl
chr1:53793852..53795650hg18UCSC Ensembl
Innerchr1:53794852..53794650hg18UCSC Ensembl
Outerchr1:53792852..53796650hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3394793
Supporting Variants
SamplesNA19240
Known GenesGLIS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692371
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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