A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740297



Internal ID10323933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:88743130..88745238hg38UCSC Ensembl
OuterchrX:87998131..88000239hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg382109
hg192109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667852
SamplesSSM030
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)esv2740297
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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