A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14870676



Internal ID2752767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98414929..98415290hg38UCSC Ensembl
Innerchr13:98414964..98415256hg38UCSC Ensembl
Outerchr13:98414895..98415325hg38UCSC Ensembl
chr13:99067183..99067544hg19UCSC Ensembl
Innerchr13:99067218..99067510hg19UCSC Ensembl
Outerchr13:99067149..99067579hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633309
Supporting Variants
SamplesHG02420
Known GenesFARP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14870676
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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