A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740385



Internal ID10324021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:113172795..113173291hg38UCSC Ensembl
OuterchrX:112416022..112416518hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677068, essv6965517, essv6964582, essv6849984, essv6799438, essv6737357
SamplesSSM027, SSM050, SSM032, SSM086, SSM072, SSM004
Known Genes
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)esv2740385
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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