A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957880



Internal ID10066464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:74222567..74222634hg38UCSC Ensembl
OuterchrX:73442402..73442469hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740226, esv2740225
Supporting Variants
SamplesSSM026
Known GenesFTX
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)essv6957880
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