A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740396



Internal ID10324032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:113931099..113931294hg38UCSC Ensembl
OuterchrX:113174375..113174578hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38196
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915525, essv6802964
SamplesSSM073, SSM016
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)esv2740396
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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