A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6808814



Internal ID10210338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120509466..120509766hg38UCSC Ensembl
OuterchrX:119643321..119643621hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740434
Supporting Variants
SamplesSSM075
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)essv6808814
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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