A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662469



Internal ID9928574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1402606..1402715hg38UCSC Ensembl
OuterchrX:1402569..1402765hg38UCSC Ensembl
InnerchrX:1521499..1521608hg19UCSC Ensembl
OuterchrX:1521462..1521658hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6501438, essv6380981, essv6363445, essv6110723, essv5832574, essv6284071, essv6054590, essv6596297, essv6033427, essv5893010, essv6438634, essv5742915, essv5865368, essv6172896, essv5586384, essv5435600, essv5504845, essv5424794, essv6383663, essv6205202, essv6138547, essv5648957, essv5817624, essv5857036, essv5992486, essv5657126, essv6021134, essv6346366, essv6408248, essv6146705, essv6452247, essv5942637, essv5787462, essv6236456, essv6028321, essv5973227, essv6352680, essv6292672, essv5937477, essv6134333, essv5446974, essv6099280, essv6175704, essv6489155, essv6570630, essv6471416, essv5871394, essv6317501, essv6560023, essv5887067, essv5421429, essv6413721, essv6346893, essv5997213, essv6045588, essv6531731, essv5560682, essv6429151, essv6166279, essv5850396, essv6438398, essv5477850, essv5399039, essv5879803, essv6561517, essv6526870, essv5827801, essv6541830, essv6034482, essv5541994, essv6101124, essv5730342, essv5858392
SamplesHG01060, HG00442, HG01173, HG00608, HG00671, HG01374, HG00699, NA18530, NA18633, NA18602, HG00327, HG01070, HG00589, HG00251, HG00501, HG00689, HG00448, NA18582, NA19138, HG01365, HG00590, NA18611, NA19404, HG00139, HG00277, HG01069, HG00683, HG01170, NA19371, HG00422, HG00338, NA18557, HG00419, HG00253, NA18638, HG00108, HG01353, NA18613, HG00443, HG00282, NA19403, HG00428, HG00701, HG00584, HG00583, NA18637, HG00500, NA18572, NA18534, HG00692, HG00284, HG01073, HG01334, HG00463, HG00246, HG01107, NA18542, NA18543, NA18559, HG00580, HG00375, HG00620, HG00339, HG00125, HG00707, HG00478, NA18636, HG00280, HG01082, NA18624, NA18549, HG01061, HG00581
Known GenesASMTL-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662469
Frequency
Sample Size1151
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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