A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859154



Internal ID9662031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1514333..1514499hg38UCSC Ensembl
OuterchrX:1633226..1633392hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739731
Supporting Variants
SamplesSSM011
Known GenesP2RY8
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)essv6859154
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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