A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14716007



Internal ID4717823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:47917552..47921954hg38UCSC Ensembl
Innerchr13:47917568..47921938hg38UCSC Ensembl
Outerchr13:47917536..47921970hg38UCSC Ensembl
chr13:48491687..48496089hg19UCSC Ensembl
Innerchr13:48491703..48496073hg19UCSC Ensembl
Outerchr13:48491671..48496105hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg384403
hg194403
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632016
Supporting Variants
SamplesNA19207
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14716007
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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