A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363395



Internal ID15210373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39171296..39171296hg38UCSC Ensembl
Innerchr17:39171294..39171298hg38UCSC Ensembl
Outerchr17:39171294..39171298hg38UCSC Ensembl
chr17:37327549..37327549hg19UCSC Ensembl
Innerchr17:37327547..37327551hg19UCSC Ensembl
Outerchr17:37327547..37327551hg19UCSC Ensembl
chr17:34581075..34581075hg18UCSC Ensembl
Innerchr17:34581077..34581073hg18UCSC Ensembl
Outerchr17:34581073..34581077hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865974, essv7865973
SamplesNA11992, NA18961
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363395
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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