A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670394



Internal ID9936499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18448402..18562308hg38UCSC Ensembl
Outerchr17:18448031..18562678hg38UCSC Ensembl
Innerchr17:18351716..18465622hg19UCSC Ensembl
Outerchr17:18351345..18465992hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38114648
hg19114648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6218834, essv6309422, essv5496025, essv5478067, essv6500335, essv5566839, essv6400015, essv5548600, essv5468642, essv6354276, essv6107008, essv5947756, essv5678673, essv5890649, essv6365209, essv6011452, essv5650892, essv5726198, essv5771381, essv5565956, essv6073935, essv5807600, essv5689855, essv6533091, essv6219893, essv5891862, essv5400026, essv6379371, essv6541491, essv6099547, essv6193375, essv5470760, essv5870275, essv5739238
SamplesHG00143, HG00249, HG00100, HG00233, HG00103, HG00115, HG00261, HG00138, HG00251, HG00122, HG00247, HG00243, HG00158, HG00120, HG00148, HG00106, HG00236, HG00156, HG00262, HG00264, HG00108, HG00260, HG00149, HG00263, HG00239, HG00250, HG01334, HG00152, HG00141, HG00254, HG00237, HG00259, HG00112, HG00252
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670394
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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