A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14686139



Internal ID5947953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32816802..32865406hg38UCSC Ensembl
Innerchr13:32816802..32865406hg38UCSC Ensembl
Outerchr13:32816302..32865906hg38UCSC Ensembl
chr13:33390940..33439544hg19UCSC Ensembl
Innerchr13:33390940..33439544hg19UCSC Ensembl
Outerchr13:33390440..33440044hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3848605
hg1948605
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631729
Supporting Variants
SamplesNA19360
Known GenesLINC00423
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14686139
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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