A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1323e201



Internal ID22760681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134788256..134788332hg38UCSC Ensembl
chrX:133922286..133922362hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2740490, esv2740492
SamplesSSM087, SSM026, SSM086
Known GenesFAM122B
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)dgv1323e201
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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