A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740232



Internal ID9974574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:74596961..74597841hg38UCSC Ensembl
OuterchrX:73816796..73817676hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855989
SamplesSSM087
Known GenesRLIM
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)esv2740232
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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