A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302780



Internal ID15149728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73710551..73710722hg38UCSC Ensembl
Innerchr13:73710636..73710636hg38UCSC Ensembl
Outerchr13:73710451..73710822hg38UCSC Ensembl
chr13:74284688..74284859hg19UCSC Ensembl
Innerchr13:74284773..74284773hg19UCSC Ensembl
Outerchr13:74284588..74284959hg19UCSC Ensembl
chr13:73182689..73182860hg18UCSC Ensembl
Innerchr13:73182774..73182774hg18UCSC Ensembl
Outerchr13:73182589..73182960hg18UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38172
hg19172
hg18172
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738973, essv7736224, essv7732181, essv7737137, essv7731811, essv7733263, essv7735998
SamplesNA18508, NA12004, NA11993, NA18871, NA19114, NA19257, NA18909
Known GenesKLF12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302780
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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