A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14848210



Internal ID6352402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90823617..90858530hg38UCSC Ensembl
Innerchr13:90823634..90858514hg38UCSC Ensembl
Outerchr13:90823601..90858547hg38UCSC Ensembl
chr13:91475871..91510784hg19UCSC Ensembl
Innerchr13:91475888..91510768hg19UCSC Ensembl
Outerchr13:91475855..91510801hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3834914
hg1934914
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633136
Supporting Variants
SamplesNA20281
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14848210
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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