A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310352



Internal ID15157303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38594579..38594580hg38UCSC Ensembl
Innerchr17:38594511..38594648hg38UCSC Ensembl
Outerchr17:38594510..38594649hg38UCSC Ensembl
chr17:36750832..36750833hg19UCSC Ensembl
Innerchr17:36750764..36750901hg19UCSC Ensembl
Outerchr17:36750763..36750902hg19UCSC Ensembl
chr17:34004358..34004359hg18UCSC Ensembl
Innerchr17:34004427..34004290hg18UCSC Ensembl
Outerchr17:34004289..34004428hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38142
hg19142
hg18142
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838186, essv7837719, essv7837192, essv7838430, essv7838963
SamplesNA12891, NA19238, NA19239, NA12878, NA12892
Known GenesSRCIN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310352
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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