A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657633



Internal ID9923738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:5241431..5246164hg38UCSC Ensembl
chrX:5159472..5164205hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg384734
hg194734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5923057, essv5791108, essv6416372, essv6174847, essv5649284, essv6385883, essv6034402, essv6528746, essv6482386, essv5930832, essv5911830, essv6415036, essv5827874, essv5976990, essv6035355, essv5408859, essv6504639, essv5628670, essv5797246, essv5593797, essv6408091, essv6535802, essv5766986, essv6274869, essv5688714, essv6534154, essv6039656, essv6559517, essv5698003, essv5910807, essv5634178, essv5488732, essv6201817, essv5473028, essv6108044, essv5688266, essv5787667, essv5809722, essv5408980, essv5752343, essv5791321, essv6333292, essv6236242, essv5977600, essv5874966, essv5495594
SamplesHG01521, HG01359, NA12273, NA11933, HG00233, NA20805, HG00150, NA20507, NA20771, HG00337, HG00641, HG00138, NA19381, NA20796, NA19382, HG01168, NA20769, NA12348, NA20540, HG00158, NA20775, HG00309, NA19722, HG00178, NA20757, NA11831, HG00137, HG01136, NA20800, HG00176, HG00328, NA20521, NA19717, HG00344, HG00258, NA20799, HG00124, NA20801, NA19834, HG01113, HG00125, HG01055, HG00131, NA07056, HG01125, NA12006
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657633
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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