A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15600014



Internal ID5601603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5435796..5436794hg38UCSC Ensembl
Innerchr17:5435798..5436792hg38UCSC Ensembl
Outerchr17:5435794..5436796hg38UCSC Ensembl
chr17:5339116..5340114hg19UCSC Ensembl
Innerchr17:5339118..5340112hg19UCSC Ensembl
Outerchr17:5339114..5340116hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38999
hg19999
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639815
Supporting Variants
SamplesNA18868
Known GenesC1QBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15600014
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