A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739855



Internal ID10323491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2393750..2394011hg38UCSC Ensembl
OuterchrX:2311791..2312052hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957807, essv6671841, essv6908072, essv6682155, essv6791019, essv6701583
SamplesSSM039, SSM026, SSM031, SSM014, SSM005, SSM070
Known GenesDHRSX
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)esv2739855
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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