A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667652



Internal ID9587071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32928837..32928884hg38UCSC Ensembl
Outerchr17:32928680..32929037hg38UCSC Ensembl
Innerchr17:31255855..31255902hg19UCSC Ensembl
Outerchr17:31255698..31256055hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6280800, essv5981491, essv6295383, essv6185932, essv6126278, essv5881359, essv6426855, essv5542323, essv5973736, essv5990113, essv6506284, essv6021277, essv5778798, essv6557790, essv6424810, essv6454974, essv5915939, essv5879638, essv6295726, essv6024577, essv5643865, essv5831076, essv5449416, essv6057314, essv5562805, essv6430581, essv5505332, essv5629534, essv6173093
SamplesNA19137, NA19445, NA19436, HG01440, NA20346, NA20296, NA19453, NA19355, NA18868, NA20340, NA19463, HG01378, NA19197, NA18856, NA19429, NA19324, NA19360, NA19377, NA19129, NA19703, NA20126, NA18502, HG01069, NA18909, NA20332, NA19116, HG01108, NA19385, NA18519
Known GenesTMEM98
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667652
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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