A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8970973



Internal ID14175079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6635342..6635354hg38UCSC Ensembl
Innerchr17:6635333..6635363hg38UCSC Ensembl
Outerchr17:6635321..6635375hg38UCSC Ensembl
chr17:6538662..6538674hg19UCSC Ensembl
Innerchr17:6538653..6538683hg19UCSC Ensembl
Outerchr17:6538641..6538695hg19UCSC Ensembl
chr17:6479386..6479398hg18UCSC Ensembl
Innerchr17:6479407..6479377hg18UCSC Ensembl
Outerchr17:6479365..6479419hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3372044
Supporting Variants
SamplesNA18947
Known GenesKIAA0753
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8970973
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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