A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739885



Internal ID10323521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2827061..2827244hg38UCSC Ensembl
OuterchrX:2745102..2745285hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1312e201
Supporting Variantsessv6930972, essv6799397, essv6948310, essv6975653
SamplesSSM024, SSM029, SSM072, SSM020
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)esv2739885
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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