A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739691



Internal ID10323327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1368665..1368964hg38UCSC Ensembl
OuterchrX:1487558..1487857hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1300e201
Supporting Variantsessv6799378, essv6727584, essv6859098, essv6893966, essv6849853, essv6861421, essv6723708, essv6682044, essv6884566
SamplesSSM045, SSM046, SSM011, SSM088, SSM086, SSM072, SSM005, SSM095, SSM098
Known GenesIL3RA
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)esv2739691
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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