A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818826



Internal ID10218548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:134960020..134961233hg38UCSC Ensembl
OuterchrX:134094050..134095263hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg381214
hg191214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740494
Supporting Variants
SamplesSSM078
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)essv6818826
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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