A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740628



Internal ID10324264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153382538..153383650hg38UCSC Ensembl
OuterchrX:152647996..152649108hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381113
hg191113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939592, essv6791114
SamplesSSM022, SSM070
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)esv2740628
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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