A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671377



Internal ID9590796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75276612..75277019hg38UCSC Ensembl
chr17:73272693..73273100hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6195346, essv5853043, essv6329813, essv6229178, essv6299918, essv6342219, essv5460331, essv5808905, essv6159277, essv6570545, essv6110711, essv6430526, essv6444925, essv6019962, essv6136943, essv6558703, essv5721031, essv5443301, essv6062251, essv5397400, essv5978177, essv6561859, essv5864512, essv6140037, essv5787222, essv5553132, essv6344619, essv5673880, essv6594678, essv6095511, essv6317807, essv5449320, essv5549474, essv5721277, essv5924621, essv6536684, essv5408483, essv6410119, essv6003414, essv5674099, essv6030577, essv6160849, essv6420148
SamplesHG01462, HG00524, HG01079, HG00233, NA18545, HG00663, NA20796, HG01070, HG00251, NA18597, HG00689, NA18567, NA11992, HG00346, NA18571, NA20513, HG00512, HG00281, NA18990, HG00159, HG01048, HG00326, HG00108, HG00133, NA18544, HG00268, NA20524, HG00584, HG00500, NA20126, HG00740, HG00690, NA12249, NA18555, NA18576, NA20765, NA18543, HG00625, HG00136, HG00278, HG00656, NA18989, HG01097
Known GenesSLC25A19
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671377
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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