A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765310



Internal ID9654638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54974087..54975845hg38UCSC Ensembl
OuterchrX:55000520..55002278hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740180, esv2740175
Supporting Variants
SamplesSSM008
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)essv6765310
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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