A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1306e201



Internal ID22760664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1624628..1624922hg38UCSC Ensembl
chrX:1743521..1743815hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741752, esv2739753, esv2741102, esv2743393
SamplesSSM042, SSM029, SSM068, SSM070
Known GenesASMT
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)dgv1306e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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