A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14680461



Internal ID3787186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29176683..29177544hg38UCSC Ensembl
Innerchr13:29176684..29177543hg38UCSC Ensembl
Outerchr13:29176682..29177545hg38UCSC Ensembl
chr13:29750820..29751681hg19UCSC Ensembl
Innerchr13:29750821..29751680hg19UCSC Ensembl
Outerchr13:29750819..29751682hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38862
hg19862
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631649
Supporting Variants
SamplesHG03436
Known GenesMTUS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14680461
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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