A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14863532



Internal ID3479249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93359528..93451681hg38UCSC Ensembl
Innerchr13:93359528..93451681hg38UCSC Ensembl
Outerchr13:93359028..93452181hg38UCSC Ensembl
chr13:94011781..94103934hg19UCSC Ensembl
Innerchr13:94011781..94103934hg19UCSC Ensembl
Outerchr13:94011281..94104434hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3892154
hg1992154
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633199
Supporting Variants
SamplesHG03095
Known GenesGPC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14863532
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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