A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740491



Internal ID10324127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:134788257..134788500hg38UCSC Ensembl
OuterchrX:133922287..133922530hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1324e201
Supporting Variantsessv6775070, essv6767953, essv6881809, essv6957936
SamplesSSM064, SSM026, SSM094, SSM066
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)esv2740491
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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