A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740627



Internal ID10324263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153345567..153345728hg38UCSC Ensembl
OuterchrX:152611025..152611186hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787001
SamplesSSM069
Known GenesZNF275
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)esv2740627
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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