A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15740834



Internal ID5742650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75929772..75959761hg38UCSC Ensembl
Innerchr17:75929922..75959611hg38UCSC Ensembl
Outerchr17:75929622..75959911hg38UCSC Ensembl
chr17:73925853..73955842hg19UCSC Ensembl
Innerchr17:73926003..73955692hg19UCSC Ensembl
Outerchr17:73925703..73955992hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3829990
hg1929990
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641270
Supporting Variants
SamplesNA19676
Known GenesACOX1, FBF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15740834
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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