A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416216



Internal ID14916489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16185685..16185712hg38UCSC Ensembl
Innerchr17:16185648..16185749hg38UCSC Ensembl
Outerchr17:16185621..16185776hg38UCSC Ensembl
chr17:16088999..16089026hg19UCSC Ensembl
Innerchr17:16088962..16089063hg19UCSC Ensembl
Outerchr17:16088935..16089090hg19UCSC Ensembl
chr17:16029724..16029751hg18UCSC Ensembl
Innerchr17:16029788..16029687hg18UCSC Ensembl
Outerchr17:16029660..16029815hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865960
SamplesNA12005
Known GenesNCOR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416216
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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