A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767945



Internal ID10174687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:106851081..106856204hg38UCSC Ensembl
OuterchrX:106094311..106099434hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg385124
hg195124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740375
Supporting Variants
SamplesSSM064
Known GenesTBC1D8B
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)essv6767945
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