A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442833



Internal ID15289786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38594569..38594629hg38UCSC Ensembl
Innerchr17:38594585..38594610hg38UCSC Ensembl
Outerchr17:38594525..38594673hg38UCSC Ensembl
chr17:36750822..36750882hg19UCSC Ensembl
Innerchr17:36750838..36750863hg19UCSC Ensembl
Outerchr17:36750778..36750926hg19UCSC Ensembl
chr17:34004348..34004408hg18UCSC Ensembl
Innerchr17:34004389..34004364hg18UCSC Ensembl
Outerchr17:34004304..34004452hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38160
hg19160
hg18160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673424
SamplesNA19238
Known GenesSRCIN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442833
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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