A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672795



Internal ID9592214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3711575..3715331hg38UCSC Ensembl
OuterchrX:3711204..3715701hg38UCSC Ensembl
InnerchrX:3629616..3633372hg19UCSC Ensembl
OuterchrX:3629245..3633742hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg384498
hg194498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5744461, essv6477389, essv5649367, essv5990992, essv5794725, essv6028575, essv6146239, essv6575648, essv6558447, essv6437802, essv6014300, essv5915718, essv6463765, essv6452334, essv6565534, essv6419160, essv6315262, essv5785017, essv5846701, essv5525079, essv5887166, essv5906407, essv6330246, essv6275621, essv6439660, essv6215476, essv5685058, essv5874715, essv5518291, essv5642783, essv6092795, essv6266987, essv6009332, essv5739140, essv6144636, essv5605429, essv5594863, essv5494820, essv6052069, essv5685938, essv6593163, essv6513139, essv5916255, essv5635742, essv6042691, essv5396893, essv6049509, essv5987313, essv5439032, essv6150224, essv5425792, essv5404828, essv5455688, essv5578075, essv5772642, essv6345244, essv5440925, essv6558255, essv5725981, essv6377795
SamplesNA11881, NA12827, NA12154, NA12718, NA12043, NA12489, NA07347, NA12750, NA12748, NA11930, NA12286, NA12342, NA12347, NA12340, NA12828, NA12058, NA07051, NA11893, NA12287, NA12414, NA11919, NA12282, NA11994, NA12155, NA07357, NA12273, NA07048, NA11933, NA11843, NA11831, NA12829, NA12830, NA12777, NA12144, NA12751, NA12006, NA07346, NA12716, NA06986, NA12275, NA11832, NA10851, NA12272, NA12749, NA06984, NA12413, NA12156, NA12889, NA11992, NA12003, NA12399, NA12546, NA12842, NA12045, NA11932, NA11829, NA12717, NA06994, NA07000, NA12775
Known GenesPRKX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672795
Frequency
Sample Size1151
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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