A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367367



Internal ID14867626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45511903..45520201hg38UCSC Ensembl
Innerchr17:45512903..45519201hg38UCSC Ensembl
Outerchr17:45510903..45521201hg38UCSC Ensembl
chr17:43589269..43597567hg19UCSC Ensembl
Innerchr17:43590269..43596567hg19UCSC Ensembl
Outerchr17:43588269..43598567hg19UCSC Ensembl
chr17:40945052..40953350hg18UCSC Ensembl
Innerchr17:40946052..40952350hg18UCSC Ensembl
Outerchr17:40944052..40954350hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388299
hg198299
hg188299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1760e59
Supporting Variantsessv8690848
SamplesNA12891
Known GenesLRRC37A4P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367367
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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