A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869277



Internal ID4871093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96206868..96208304hg38UCSC Ensembl
Innerchr13:96206868..96208304hg38UCSC Ensembl
Outerchr13:96206767..96208441hg38UCSC Ensembl
chr13:96859122..96860558hg19UCSC Ensembl
Innerchr13:96859122..96860558hg19UCSC Ensembl
Outerchr13:96859021..96860695hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633265
Supporting Variants
SamplesNA19404
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869277
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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