A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690733



Internal ID14755144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36212437..36216183hg38UCSC Ensembl
Innerchr17:36213385..36215183hg38UCSC Ensembl
Outerchr17:36211437..36217183hg38UCSC Ensembl
chr17:34539839..34543637hg19UCSC Ensembl
Innerchr17:34540839..34542637hg19UCSC Ensembl
Outerchr17:34538839..34544637hg19UCSC Ensembl
chr17:31563952..31567750hg18UCSC Ensembl
Innerchr17:31564952..31566750hg18UCSC Ensembl
Outerchr17:31562952..31568750hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383747
hg193799
hg183799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3345949
Supporting Variants
SamplesNA19240
Known GenesCCL4L1, CCL4L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690733
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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