A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869370



Internal ID3450918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97242800..97248449hg38UCSC Ensembl
Innerchr13:97242816..97248434hg38UCSC Ensembl
Outerchr13:97242785..97248465hg38UCSC Ensembl
chr13:97895054..97900703hg19UCSC Ensembl
Innerchr13:97895070..97900688hg19UCSC Ensembl
Outerchr13:97895039..97900719hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg385650
hg195650
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633288
Supporting Variants
SamplesHG03078
Known GenesMBNL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869370
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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