A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740490



Internal ID10324126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:134788256..134788332hg38UCSC Ensembl
OuterchrX: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 Variantsdgv1323e201
Supporting Variantsessv6856033, essv6850005, essv6957936
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)esv2740490
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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