A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14798320



Internal ID4857082
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632747
Supporting Variants
SamplesNA12275
Known GenesTBC1D4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14798320
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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