A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740471



Internal ID10324107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130504389..130504994hg38UCSC Ensembl
OuterchrX:129638363..129638968hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850002, essv6802971, essv6845400, essv6957933, essv6876134, essv6708893
SamplesSSM073, SSM041, SSM092, SSM026, SSM086, SSM085
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)esv2740471
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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