A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740368



Internal ID10324004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:105947149..105947470hg38UCSC Ensembl
OuterchrX:105191141..105191462hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677067, essv6682499, essv6904232, essv6808810, essv6814788, essv6866229, essv6719968, essv6975745, essv6849981, essv6897125, essv6782766, essv6856016
SamplesSSM075, SSM087, SSM013, SSM029, SSM089, SSM032, SSM044, SSM086, SSM068, SSM005, SSM077, SSM099
Known GenesNRK
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)esv2740368
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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