A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14680745



Internal ID6872834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29852975..29873864hg38UCSC Ensembl
Innerchr13:29853125..29873714hg38UCSC Ensembl
Outerchr13:29852825..29874014hg38UCSC Ensembl
chr13:30427112..30448001hg19UCSC Ensembl
Innerchr13:30427262..30447851hg19UCSC Ensembl
Outerchr13:30426962..30448151hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3820890
hg1920890
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631660
Supporting Variants
SamplesNA21097
Known GenesLINC00297
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14680745
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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