A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14880966



Internal ID5536765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102005659..102017279hg38UCSC Ensembl
Innerchr13:102005659..102017279hg38UCSC Ensembl
Outerchr13:102005336..102017596hg38UCSC Ensembl
chr13:102658009..102669629hg19UCSC Ensembl
Innerchr13:102658009..102669629hg19UCSC Ensembl
Outerchr13:102657686..102669946hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3811621
hg1911621
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633372
Supporting Variants
SamplesNA19000
Known GenesFGF14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14880966
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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