A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740221



Internal ID9974563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72272767..72273230hg38UCSC Ensembl
OuterchrX:71492617..71493080hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811700
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)esv2740221
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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