A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826941



Internal ID10227729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:113931312..113931422hg38UCSC Ensembl
OuterchrX:113174596..113174738hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38111
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740397, esv2740394, esv2740399
Supporting Variants
SamplesSSM080
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)essv6826941
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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