A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15724995



Internal ID6885823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65642381..65643118hg38UCSC Ensembl
Innerchr17:65642393..65643106hg38UCSC Ensembl
Outerchr17:65642369..65643130hg38UCSC Ensembl
chr17:63638499..63639236hg19UCSC Ensembl
Innerchr17:63638511..63639224hg19UCSC Ensembl
Outerchr17:63638487..63639248hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38738
hg19738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641044
Supporting Variants
SamplesNA21103
Known GenesCEP112
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15724995
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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