A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6923569



Internal ID10032858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85254322..85254690hg38UCSC Ensembl
OuterchrX:84509328..84509696hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740275
Supporting Variants
SamplesSSM018
Known GenesZNF711
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)essv6923569
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