A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765266



Internal ID9654642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48201167..48248376hg38UCSC Ensembl
OuterchrX:48060603..48107811hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3847210
hg1947209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740145, esv2740146
Supporting Variants
SamplesSSM008
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)essv6765266
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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