A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6740392



Internal ID10149438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27210326..27210989hg38UCSC Ensembl
OuterchrX:27228443..27229106hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740030
Supporting Variants
SamplesSSM052
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)essv6740392
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