A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735998



Internal ID14424051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:73710636..73710637hg38UCSC Ensembl
Outerchr13:73710452..73710822hg38UCSC Ensembl
Innerchr13:74284773..74284774hg19UCSC Ensembl
Outerchr13:74284589..74284959hg19UCSC Ensembl
Innerchr13:73182775..73182774hg18UCSC Ensembl
Outerchr13:73182590..73182960hg18UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38371
hg19371
hg18371
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302780
Supporting Variants
SamplesNA18909
Known GenesKLF12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735998
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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