A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402129



Internal ID14902405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45512103..45520201hg38UCSC Ensembl
Innerchr17:45513103..45519201hg38UCSC Ensembl
Outerchr17:45511103..45521201hg38UCSC Ensembl
chr17:43589469..43597567hg19UCSC Ensembl
Innerchr17:43590469..43596567hg19UCSC Ensembl
Outerchr17:43588469..43598567hg19UCSC Ensembl
chr17:40945252..40953350hg18UCSC Ensembl
Innerchr17:40946252..40952350hg18UCSC Ensembl
Outerchr17:40944252..40954350hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388099
hg198099
hg188099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1760e59
Supporting Variantsessv8690852
SamplesNA19239
Known GenesLRRC37A4P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402129
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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