A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15666710



Internal ID4862770
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640488
Supporting Variants
SamplesNA12286
Known GenesACACA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15666710
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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