A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740375



Internal ID10324011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:106851053..106856210hg38UCSC Ensembl
OuterchrX:106094283..106099440hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg385158
hg195158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719969, essv6767945, essv6680907
SamplesSSM064, SSM044, SSM033
Known GenesTBC1D8B
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)esv2740375
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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