A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723727



Internal ID10134837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2845144..2845526hg38UCSC Ensembl
OuterchrX:2763185..2763567hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739891, esv2739883, esv2739893
Supporting Variants
SamplesSSM045
Known GenesGYG2
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)essv6723727
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