A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14678677



Internal ID1130405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28769073..28774150hg38UCSC Ensembl
Innerchr13:28769118..28774106hg38UCSC Ensembl
Outerchr13:28769029..28774195hg38UCSC Ensembl
chr13:29343210..29348287hg19UCSC Ensembl
Innerchr13:29343255..29348243hg19UCSC Ensembl
Outerchr13:29343166..29348332hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg385078
hg195078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631641
Supporting Variants
SamplesHG00851
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14678677
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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