A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14713483



Internal ID4715299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46707152..46708100hg38UCSC Ensembl
Innerchr13:46707161..46708092hg38UCSC Ensembl
Outerchr13:46707144..46708109hg38UCSC Ensembl
chr13:47281287..47282235hg19UCSC Ensembl
Innerchr13:47281296..47282227hg19UCSC Ensembl
Outerchr13:47281279..47282244hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38949
hg19949
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631993
Supporting Variants
SamplesHG01974
Known GenesLRCH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14713483
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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