A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740096



Internal ID10323732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:37892955..37893246hg38UCSC Ensembl
OuterchrX:37752208..37752499hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6708852, essv6667829, essv6671873, essv6727612
SamplesSSM046, SSM041, SSM031, SSM030
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)esv2740096
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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