A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14865031



Internal ID4694390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93490362..93531522hg38UCSC Ensembl
Innerchr13:93490392..93531493hg38UCSC Ensembl
Outerchr13:93490333..93531552hg38UCSC Ensembl
chr13:94142615..94183775hg19UCSC Ensembl
Innerchr13:94142645..94183746hg19UCSC Ensembl
Outerchr13:94142586..94183805hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3841161
hg1941161
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633207
Supporting Variants
SamplesHG04214
Known GenesGPC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14865031
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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