A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15725014



Internal ID4116527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66008276..66018387hg38UCSC Ensembl
Innerchr17:66008299..66018365hg38UCSC Ensembl
Outerchr17:66008254..66018410hg38UCSC Ensembl
chr17:64004394..64014505hg19UCSC Ensembl
Innerchr17:64004417..64014483hg19UCSC Ensembl
Outerchr17:64004372..64014528hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3810112
hg1910112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641052
Supporting Variants
SamplesHG03736
Known GenesCEP112
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15725014
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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