A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14834941



Internal ID6024047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:88496925..88504060hg38UCSC Ensembl
Innerchr13:88496925..88504060hg38UCSC Ensembl
Outerchr13:88496768..88504214hg38UCSC Ensembl
chr13:89149180..89156315hg19UCSC Ensembl
Innerchr13:89149180..89156315hg19UCSC Ensembl
Outerchr13:89149023..89156469hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg387136
hg197136
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633066
Supporting Variants
SamplesNA19435
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14834941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer