A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676411



Internal ID9942516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41083029..41104211hg38UCSC Ensembl
chr17:39239281..39260463hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3821183
hg1921183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv552e199
Supporting Variantsessv6230447
SamplesHG01137
Known GenesKRTAP4-7, KRTAP4-8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676411
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