A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6786984



Internal ID9845082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119470510..119470891hg38UCSC Ensembl
OuterchrX:118604473..118604854hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740429
Supporting Variants
SamplesSSM069
Known GenesSLC25A5
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)essv6786984
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