A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1324e201



Internal ID22760682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134788257..134788500hg38UCSC Ensembl
chrX:133922287..133922530hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2740493, esv2740491
SamplesSSM064, SSM026, SSM094, SSM066
Known GenesFAM122B
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)dgv1324e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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