A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740400



Internal ID10324036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:114261306..114261537hg38UCSC Ensembl
OuterchrX:113504549..113504788hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38232
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964585, essv6939564, essv6731386, essv6915526, essv6740433
SamplesSSM027, SSM047, SSM016, SSM022, SSM052
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2740400
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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