A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349047



Internal ID15196029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63198195..63198202hg38UCSC Ensembl
Innerchr17:63198197..63198200hg38UCSC Ensembl
Outerchr17:63198193..63198204hg38UCSC Ensembl
chr17:61275556..61275563hg19UCSC Ensembl
Innerchr17:61275558..61275561hg19UCSC Ensembl
Outerchr17:61275554..61275565hg19UCSC Ensembl
chr17:58629288..58629295hg18UCSC Ensembl
Innerchr17:58629290..58629293hg18UCSC Ensembl
Outerchr17:58629286..58629297hg18UCSC Ensembl
Cytoband17q23.3
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 Variantsessv7865985
SamplesNA12005
Known GenesTANC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349047
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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