A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865969



Internal ID13318155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30833188..30833210hg38UCSC Ensembl
Innerchr17:30833190..30833208hg38UCSC Ensembl
Outerchr17:30833186..30833212hg38UCSC Ensembl
chr17:29160206..29160228hg19UCSC Ensembl
Innerchr17:29160208..29160226hg19UCSC Ensembl
Outerchr17:29160204..29160230hg19UCSC Ensembl
chr17:26184332..26184354hg18UCSC Ensembl
Innerchr17:26184334..26184352hg18UCSC Ensembl
Outerchr17:26184330..26184356hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336435
Supporting Variants
SamplesNA12005
Known GenesATAD5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865969
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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