A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641250



Internal ID6681335
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15740484, essv15740486, essv15740485, essv15740487
SamplesNA19030, NA19700, NA19025, HG02679
Known GenesFADS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641250
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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