A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740360



Internal ID10323996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:101836456..101836531hg38UCSC Ensembl
OuterchrX:101091428..101091503hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849979
SamplesSSM086
Known GenesNXF5
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)esv2740360
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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