A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740249



Internal ID10323885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:79816709..79817014hg38UCSC Ensembl
OuterchrX:79072206..79072511hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900094, essv6811702, essv6684436, essv6723767, essv6859609, essv6834249, essv6786962
SamplesSSM100, SSM045, SSM011, SSM069, SSM082, SSM076, SSM034
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)esv2740249
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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