A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14741284



Internal ID3874600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56129946..56175664hg38UCSC Ensembl
Innerchr13:56129946..56175664hg38UCSC Ensembl
Outerchr13:56129446..56176164hg38UCSC Ensembl
chr13:56704080..56749798hg19UCSC Ensembl
Innerchr13:56704080..56749798hg19UCSC Ensembl
Outerchr13:56703580..56750298hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3845719
hg1945719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632171
Supporting Variants
SamplesHG03517
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14741284
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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