A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6680927



Internal ID9750446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148546990..148547464hg38UCSC Ensembl
OuterchrX:147628511..147628985hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740588
Supporting Variants
SamplesSSM033
Known GenesAFF2
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)essv6680927
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