A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632030



Internal ID7018840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48628582..48629395hg38UCSC Ensembl
Innerchr13:48628582..48629395hg38UCSC Ensembl
Outerchr13:48628384..48629600hg38UCSC Ensembl
chr13:49202718..49203531hg19UCSC Ensembl
Innerchr13:49202718..49203531hg19UCSC Ensembl
Outerchr13:49202520..49203736hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14716647
SamplesHG00236
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632030
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