A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740149



Internal ID9974491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48232286..48233597hg38UCSC Ensembl
OuterchrX:48091721..48093032hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381312
hg191312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731359, essv6964551, essv6892332, essv6674154, essv6765314, essv6732476, essv6757725, essv6841735, essv6690928
SamplesSSM059, SSM036, SSM027, SSM084, SSM047, SSM001, SSM007, SSM063, SSM012
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)esv2740149
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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