A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449108



Internal ID14949371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16427356..16427356hg38UCSC Ensembl
Innerchr17:16427355..16427357hg38UCSC Ensembl
Outerchr17:16427306..16427406hg38UCSC Ensembl
chr17:16330670..16330670hg19UCSC Ensembl
Innerchr17:16330669..16330671hg19UCSC Ensembl
Outerchr17:16330620..16330720hg19UCSC Ensembl
chr17:16271395..16271395hg18UCSC Ensembl
Innerchr17:16271396..16271394hg18UCSC Ensembl
Outerchr17:16271345..16271445hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381877
hg191877
hg181877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740861
SamplesNA19240
Known GenesTRPV2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449108
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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