A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14713251



Internal ID4715067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46229553..46247269hg38UCSC Ensembl
Innerchr13:46229553..46247269hg38UCSC Ensembl
Outerchr13:46229053..46247769hg38UCSC Ensembl
chr13:46803688..46821404hg19UCSC Ensembl
Innerchr13:46803688..46821404hg19UCSC Ensembl
Outerchr13:46803188..46821904hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3817717
hg1917717
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631981
Supporting Variants
SamplesHG01850
Known GenesLRRC63
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14713251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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