A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14798319



Internal ID4800135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75281592..75326999hg38UCSC Ensembl
Innerchr13:75281592..75326999hg38UCSC Ensembl
Outerchr13:75281092..75327499hg38UCSC Ensembl
chr13:75855728..75901135hg19UCSC Ensembl
Innerchr13:75855728..75901135hg19UCSC Ensembl
Outerchr13:75855228..75901635hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3845408
hg1945408
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632746
Supporting Variants
SamplesNA12275
Known GenesTBC1D4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14798319
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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