A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740376



Internal ID9974718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:107010095..107327489hg38UCSC Ensembl
OuterchrX:106253325..106570719hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38317395
hg19317395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6822915
SamplesSSM079
Known GenesNUP62CL, PIH1D3, RBM41
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)esv2740376
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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