A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674199



Internal ID9593618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50766754..50767129hg38UCSC Ensembl
chr17:48844115..48844490hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5895092, essv5658026, essv5694270, essv6088186, essv5417199, essv5792328, essv5497647, essv6071669, essv5860355, essv6242955, essv5973312, essv5573426, essv6220586, essv6382427, essv5823660, essv5523362, essv5666661, essv5732065, essv6424862, essv6366284, essv6242039, essv5426619, essv6084380, essv5518485, essv5570916, essv6365731, essv6520379, essv6053091, essv6575728, essv5600264, essv5644388, essv6084661, essv6501342, essv6102284, essv6416224, essv5573571, essv6424592, essv6006338, essv5421037, essv6183686, essv5470449, essv6074338, essv6205314, essv6493630
SamplesNA18502, NA19397, NA19914, NA19359, NA12004, HG01461, NA18870, NA20356, NA12155, NA19396, NA19171, NA18519, NA19201, NA18489, NA18923, NA18916, NA19313, NA19138, NA19384, NA19238, NA18520, NA19239, NA18908, NA18867, NA19200, NA18638, NA19152, NA19391, NA18579, NA18910, NA18976, NA19114, NA18499, NA18856, NA18853, NA19160, NA19834, NA18961, NA19712, NA19240, NA19428, HG01342, NA19093, NA19116
Known GenesLINC00483
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674199
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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