A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14780801



Internal ID3788384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67472751..67524913hg38UCSC Ensembl
Innerchr13:67472762..67524902hg38UCSC Ensembl
Outerchr13:67472740..67524924hg38UCSC Ensembl
chr13:68046883..68099045hg19UCSC Ensembl
Innerchr13:68046894..68099034hg19UCSC Ensembl
Outerchr13:68046872..68099056hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3852163
hg1952163
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632551
Supporting Variants
SamplesHG03437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14780801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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