A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567321



Internal ID18768397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:16371694..16374353hg38UCSC Ensembl
Outerchr6:16371685..16374602hg38UCSC Ensembl
Innerchr6:16371925..16374584hg19UCSC Ensembl
Outerchr6:16371916..16374833hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382918
hg192918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9766068
Samples
Known GenesATXN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567321
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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