A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14732596



Internal ID2811430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52948117..52949187hg38UCSC Ensembl
Innerchr13:52948117..52949187hg38UCSC Ensembl
Outerchr13:52947899..52949419hg38UCSC Ensembl
chr13:53522252..53523322hg19UCSC Ensembl
Innerchr13:53522252..53523322hg19UCSC Ensembl
Outerchr13:53522034..53523554hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381071
hg191071
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632111
Supporting Variants
SamplesHG02484
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14732596
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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