A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15231494



Internal ID5233310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43632277..43729059hg38UCSC Ensembl
Innerchr15:43632777..43728559hg38UCSC Ensembl
Outerchr15:43631277..43730059hg38UCSC Ensembl
chr15:43924475..44021257hg19UCSC Ensembl
Innerchr15:43924975..44020757hg19UCSC Ensembl
Outerchr15:43923475..44022257hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3896783
hg1996783
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636296
Supporting Variants
SamplesHG03740
Known GenesCATSPER2, CKMT1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15231494
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