A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740420



Internal ID10324056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:118231882..118232114hg38UCSC Ensembl
OuterchrX:117365845..117366077hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903952, essv6732765
SamplesSSM002, SSM007
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)esv2740420
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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