A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6841732



Internal ID10241041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40645912..40646215hg38UCSC Ensembl
OuterchrX:40505164..40505467hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740109
Supporting Variants
SamplesSSM084
Known GenesCXorf38
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)essv6841732
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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