A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15711837



Internal ID6544669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59652312..59654356hg38UCSC Ensembl
Innerchr17:59652316..59654353hg38UCSC Ensembl
Outerchr17:59652309..59654360hg38UCSC Ensembl
chr17:57729673..57731717hg19UCSC Ensembl
Innerchr17:57729677..57731714hg19UCSC Ensembl
Outerchr17:57729670..57731721hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg382045
hg192045
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640908
Supporting Variants
SamplesNA20588
Known GenesCLTC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15711837
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