A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15740484



Internal ID5742300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74884378..74887293hg38UCSC Ensembl
Innerchr17:74884378..74887293hg38UCSC Ensembl
Outerchr17:74884123..74887411hg38UCSC Ensembl
chr17:72880508..72883422hg19UCSC Ensembl
Innerchr17:72880508..72883422hg19UCSC Ensembl
Outerchr17:72880253..72883540hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382916
hg192915
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641250
Supporting Variants
SamplesHG02679
Known GenesFADS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15740484
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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