A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632747



Internal ID7019558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75296826..75303009hg38UCSC Ensembl
Innerchr13:75296830..75303005hg38UCSC Ensembl
Outerchr13:75296822..75303013hg38UCSC Ensembl
chr13:75870962..75877145hg19UCSC Ensembl
Innerchr13:75870966..75877141hg19UCSC Ensembl
Outerchr13:75870958..75877149hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg386184
hg196184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14798321, essv14798320
SamplesNA12275, NA19024
Known GenesTBC1D4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632747
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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