A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15636963



Internal ID5286327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18007683..18013658hg38UCSC Ensembl
Innerchr17:18007692..18013650hg38UCSC Ensembl
Outerchr17:18007675..18013667hg38UCSC Ensembl
chr17:17910997..17916972hg19UCSC Ensembl
Innerchr17:17911006..17916964hg19UCSC Ensembl
Outerchr17:17910989..17916981hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg385976
hg195976
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640139
Supporting Variants
SamplesNA18648
Known GenesLRRC48
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15636963
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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