A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6795245



Internal ID10201013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152941918..153033059hg38UCSC Ensembl
OuterchrX:152110462..152201405hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3891142
hg1990944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740625
Supporting Variants
SamplesSSM071
Known GenesPNMA5, ZNF185
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)essv6795245
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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