A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14713248



Internal ID6826255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46150994..46219563hg38UCSC Ensembl
Innerchr13:46150994..46219563hg38UCSC Ensembl
Outerchr13:46150494..46220063hg38UCSC Ensembl
chr13:46725129..46793698hg19UCSC Ensembl
Innerchr13:46725129..46793698hg19UCSC Ensembl
Outerchr13:46724629..46794198hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3868570
hg1968570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631978
Supporting Variants
SamplesNA20902
Known GenesLCP1, LRRC63
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14713248
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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