A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663470



Internal ID9582889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3688183..3688600hg38UCSC Ensembl
chrX:3606224..3606641hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1393e199
Supporting Variantsessv5451208, essv5418127, essv6273508, essv6462271, essv5922436, essv6085056, essv5860883, essv6429064, essv5662145, essv6367954, essv6295519, essv5557194, essv5886739, essv5924312, essv6112869, essv6524720, essv5857465, essv6105527, essv6290119, essv6415399, essv6184012, essv6171372, essv6012218, essv5860632, essv6002034, essv6418389, essv5943289, essv5473417, essv5552569, essv6586984, essv6195476, essv6490644, essv5723945, essv6208109, essv5714089, essv6157369, essv5823093, essv5444616, essv6584284, essv5729260, essv6216671, essv6236614, essv6361445, essv5781215, essv6131197, essv5902774, essv5890736, essv5514946, essv6436236, essv6050144, essv6306007, essv6225762, essv6163267, essv6007219, essv5612461, essv6309086
SamplesHG00626, HG00442, NA12842, HG00142, NA19399, NA11933, NA20752, NA18545, NA18616, HG00654, NA18597, NA18595, NA18619, HG00610, NA18571, HG01365, NA18964, HG00590, NA12282, HG00325, NA18560, HG00705, HG01048, NA18985, NA20757, NA19007, HG01183, HG00657, HG00500, NA19064, HG01073, HG00404, HG00684, HG00152, HG00246, HG00126, HG00258, HG00476, NA20773, NA18559, NA19712, NA07051, HG01357, HG00473, NA19439, HG01108, NA12763, HG01489, HG00513, HG00259, NA18636, HG00628, NA18624, NA19463, NA18623, HG01061
Known GenesPRKX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663470
Frequency
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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