A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690874



Internal ID13706458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45621503..45624701hg38UCSC Ensembl
Innerchr17:45622503..45623701hg38UCSC Ensembl
Outerchr17:45620503..45625701hg38UCSC Ensembl
chr17:43698869..43702067hg19UCSC Ensembl
Innerchr17:43699869..43701067hg19UCSC Ensembl
Outerchr17:43697869..43703067hg19UCSC Ensembl
chr17:41054652..41057850hg18UCSC Ensembl
Innerchr17:41055652..41056850hg18UCSC Ensembl
Outerchr17:41053652..41058850hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3368156
Supporting Variants
SamplesNA12891
Known GenesCRHR1, MGC57346
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690874
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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