A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671407



Internal ID9937512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29273273..29275203hg38UCSC Ensembl
Outerchr17:29273236..29275253hg38UCSC Ensembl
Innerchr17:27600291..27602221hg19UCSC Ensembl
Outerchr17:27600254..27602271hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382018
hg192018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6239504
SamplesNA11932
Known GenesNUFIP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671407
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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