A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632785



Internal ID6672909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77929524..77935467hg38UCSC Ensembl
Innerchr13:77929524..77935467hg38UCSC Ensembl
Outerchr13:77929260..77935730hg38UCSC Ensembl
chr13:78503659..78509602hg19UCSC Ensembl
Innerchr13:78503659..78509602hg19UCSC Ensembl
Outerchr13:78503395..78509865hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg385944
hg195944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14801755, essv14801753, essv14801752, essv14801754
SamplesHG00699, HG00728, HG00451, HG00580
Known GenesEDNRB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632785
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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