A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14669704



Internal ID5111954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:23631187..23807490hg38UCSC Ensembl
chr13:24205326..24381629hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38176304
hg19176304
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631528
Supporting Variants
SamplesNA18559
Known GenesMIPEP, TNFRSF19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14669704
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