A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740399



Internal ID10324035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:113931302..113931422hg38UCSC Ensembl
OuterchrX:113174586..113174738hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38121
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690957, essv6826941
SamplesSSM036, SSM080
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)esv2740399
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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