A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395066



Internal ID14895344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4152007..4152021hg38UCSC Ensembl
Innerchr17:4151982..4152046hg38UCSC Ensembl
Outerchr17:4151968..4152060hg38UCSC Ensembl
chr17:4055301..4055315hg19UCSC Ensembl
Innerchr17:4055276..4055340hg19UCSC Ensembl
Outerchr17:4055262..4055354hg19UCSC Ensembl
chr17:4002050..4002064hg18UCSC Ensembl
Innerchr17:4002089..4002025hg18UCSC Ensembl
Outerchr17:4002011..4002103hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865948
SamplesNA12005
Known GenesCYB5D2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395066
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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