A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688963



Internal ID14702195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45537916..45538914hg38UCSC Ensembl
Innerchr13:45537915..45538915hg38UCSC Ensembl
Outerchr13:45536916..45539914hg38UCSC Ensembl
chr13:46112051..46113049hg19UCSC Ensembl
Innerchr13:46112050..46113050hg19UCSC Ensembl
Outerchr13:46111051..46114049hg19UCSC Ensembl
chr13:45010052..45011050hg18UCSC Ensembl
Innerchr13:45011051..45010051hg18UCSC Ensembl
Outerchr13:45009052..45012050hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3335556
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688963
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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