A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740609



Internal ID10324245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:151703702..151704094hg38UCSC Ensembl
OuterchrX:150872174..150872566hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931053, essv6719996
SamplesSSM044, SSM020
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)esv2740609
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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