A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740215



Internal ID9974557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71656957..71863676hg38UCSC Ensembl
OuterchrX:70876807..71083526hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38206720
hg19206720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671896
SamplesSSM031
Known GenesBCYRN1, CXorf49, CXorf49B, LINC00891, LOC100132741
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)esv2740215
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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