A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1308e201



Internal ID22760666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1636851..1637235hg38UCSC Ensembl
chrX:1755744..1756128hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2739761, esv2739757
SamplesSSM011, SSM079, SSM031, SSM037, SSM098
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)dgv1308e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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