A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6778740



Internal ID10184347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85088068..85088262hg38UCSC Ensembl
OuterchrX:84343074..84343268hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740269, esv2740268
Supporting Variants
SamplesSSM067
Known GenesAPOOL
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)essv6778740
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