A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1321e201



Internal ID22760679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:113930988..113931616hg38UCSC Ensembl
chrX:113174264..113174908hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38629
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2740397, esv2740394
SamplesSSM036, SSM073, SSM057, SSM021, SSM029, SSM086, SSM016, SSM080, SSM070
Known Genes
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)dgv1321e201
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer