A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14741232



Internal ID2222335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:55874894..55971937hg38UCSC Ensembl
Innerchr13:55874898..55971934hg38UCSC Ensembl
Outerchr13:55874891..55971941hg38UCSC Ensembl
chr13:56449028..56546071hg19UCSC Ensembl
Innerchr13:56449032..56546068hg19UCSC Ensembl
Outerchr13:56449025..56546075hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3897044
hg1997044
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632168
Supporting Variants
SamplesHG01992
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14741232
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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