A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869361



Internal ID4871177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96988346..96989756hg38UCSC Ensembl
Innerchr13:96988346..96989756hg38UCSC Ensembl
Outerchr13:96988098..96989986hg38UCSC Ensembl
chr13:97640600..97642010hg19UCSC Ensembl
Innerchr13:97640600..97642010hg19UCSC Ensembl
Outerchr13:97640352..97642240hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633286
Supporting Variants
SamplesHG04214
Known GenesOXGR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869361
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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