A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631931



Internal ID7018741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44105978..44111552hg38UCSC Ensembl
Innerchr13:44106009..44111521hg38UCSC Ensembl
Outerchr13:44105947..44111583hg38UCSC Ensembl
chr13:44680114..44685688hg19UCSC Ensembl
Innerchr13:44680145..44685657hg19UCSC Ensembl
Outerchr13:44680083..44685719hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg385575
hg195575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710272
SamplesHG03814
Known GenesSMIM2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631931
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