A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869393



Internal ID4535562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97394950..97420813hg38UCSC Ensembl
Innerchr13:97394950..97420813hg38UCSC Ensembl
Outerchr13:97394450..97421313hg38UCSC Ensembl
chr13:98047204..98073067hg19UCSC Ensembl
Innerchr13:98047204..98073067hg19UCSC Ensembl
Outerchr13:98046704..98073567hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3825864
hg1925864
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633291
Supporting Variants
SamplesHG04029
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869393
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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