A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740222



Internal ID9974564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72273964..72275499hg38UCSC Ensembl
OuterchrX:71493814..71495349hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381536
hg191536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811701
SamplesSSM076
Known GenesRPS4X
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)esv2740222
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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