A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740180



Internal ID9974522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54974075..54975845hg38UCSC Ensembl
OuterchrX:55000508..55002278hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg381771
hg191771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6884591, essv6765310, essv6908111
SamplesSSM008, SSM014, SSM095
Known GenesPFKFB1
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)esv2740180
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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