A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14713253



Internal ID1998617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46277412..46406201hg38UCSC Ensembl
chr13:46851547..46980336hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38128790
hg19128790
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631982
Supporting Variants
SamplesHG01850
Known GenesKIAA0226L, LINC00563
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14713253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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