A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14659305



Internal ID2203536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:21168192..21172357hg38UCSC Ensembl
Innerchr13:21168192..21172357hg38UCSC Ensembl
Outerchr13:21168085..21172440hg38UCSC Ensembl
chr13:21742331..21746496hg19UCSC Ensembl
Innerchr13:21742331..21746496hg19UCSC Ensembl
Outerchr13:21742224..21746579hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg384166
hg194166
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631455
Supporting Variants
SamplesHG01985
Known GenesSKA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14659305
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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