A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640488



Internal ID7027263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37332233..37337753hg38UCSC Ensembl
Innerchr17:37332253..37337734hg38UCSC Ensembl
Outerchr17:37332214..37337773hg38UCSC Ensembl
chr17:35689173..35694694hg19UCSC Ensembl
Innerchr17:35689193..35694675hg19UCSC Ensembl
Outerchr17:35689154..35694714hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg385521
hg195522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15666709, essv15666711, essv15666710
SamplesNA20766, NA12286, HG00258
Known GenesACACA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640488
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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