A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740023



Internal ID9974365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:26193893..26194423hg38UCSC Ensembl
OuterchrX:26212010..26212540hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6845373, essv6716019, essv6884584, essv6873151
SamplesSSM085, SSM091, SSM095, SSM043
Known GenesMAGEB6
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)esv2740023
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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