A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859553



Internal ID9662472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:67545309..67545440hg38UCSC Ensembl
OuterchrX:66765151..66765282hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740196
Supporting Variants
SamplesSSM011
Known GenesAR
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)essv6859553
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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