A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14752258



Internal ID2663598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:58372740..58386538hg38UCSC Ensembl
Innerchr13:58372740..58386538hg38UCSC Ensembl
Outerchr13:58372485..58386779hg38UCSC Ensembl
chr13:58946874..58960672hg19UCSC Ensembl
Innerchr13:58946874..58960672hg19UCSC Ensembl
Outerchr13:58946619..58960913hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3813799
hg1913799
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632266
Supporting Variants
SamplesHG02356
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14752258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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