A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673035



Internal ID9939140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5435768..5436758hg38UCSC Ensembl
chr17:5339088..5340078hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38991
hg19991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5731346, essv5863761, essv5627703, essv5529088, essv5923150, essv5829827, essv5871009, essv6569062, essv6059256, essv5721349, essv6068479, essv5934389, essv6169038, essv6289788, essv6594093, essv5611563, essv6235733, essv5785153
SamplesNA18508, HG01389, NA19819, NA18870, NA18510, NA19373, NA18519, NA19313, NA18868, NA19317, NA19437, NA18517, NA19434, NA19467, NA19360, NA19398, NA19472, NA19429
Known GenesC1QBP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673035
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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