A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15725830



Internal ID5727646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66308632..66312082hg38UCSC Ensembl
Innerchr17:66308652..66312062hg38UCSC Ensembl
Outerchr17:66308612..66312102hg38UCSC Ensembl
chr17:64304750..64308200hg19UCSC Ensembl
Innerchr17:64304770..64308180hg19UCSC Ensembl
Outerchr17:64304730..64308220hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383451
hg193451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641062
Supporting Variants
SamplesNA19923
Known GenesPRKCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15725830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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