A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15610217



Internal ID5612033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9251947..9255267hg38UCSC Ensembl
Innerchr17:9251947..9255267hg38UCSC Ensembl
Outerchr17:9251797..9255429hg38UCSC Ensembl
chr17:9155264..9158584hg19UCSC Ensembl
Innerchr17:9155264..9158584hg19UCSC Ensembl
Outerchr17:9155114..9158746hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383321
hg193321
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639896
Supporting Variants
SamplesHG02332
Known GenesSTX8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15610217
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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