A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443813



Internal ID15290766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73074048..73074060hg38UCSC Ensembl
Innerchr17:73074025..73074083hg38UCSC Ensembl
Outerchr17:73074013..73074095hg38UCSC Ensembl
chr17:71070187..71070199hg19UCSC Ensembl
Innerchr17:71070164..71070222hg19UCSC Ensembl
Outerchr17:71070152..71070234hg19UCSC Ensembl
chr17:68581782..68581794hg18UCSC Ensembl
Innerchr17:68581817..68581759hg18UCSC Ensembl
Outerchr17:68581747..68581829hg18UCSC Ensembl
Cytoband17q25.1
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 Variantsessv7865997
SamplesNA12005
Known GenesSLC39A11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443813
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer