A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740358



Internal ID9974700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:101433201..101433323hg38UCSC Ensembl
OuterchrX:100688189..100688311hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957913, essv6671916, essv6939558
SamplesSSM026, SSM031, SSM022
Known GenesARMCX4
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)esv2740358
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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