A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6754926



Internal ID9815100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:26165089..26198398hg38UCSC Ensembl
OuterchrX:26183206..26216515hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3833310
hg1933310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740021
Supporting Variants
SamplesSSM058
Known GenesMAGEB6
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)essv6754926
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