A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740355



Internal ID10323991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100853531..100853760hg38UCSC Ensembl
OuterchrX:100108520..100108749hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682488, essv6884606
SamplesSSM005, SSM095
Known GenesNOX1
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)esv2740355
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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