A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6944059



Internal ID9705961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119470512..119470948hg38UCSC Ensembl
OuterchrX:118604475..118604911hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740429
Supporting Variants
SamplesSSM023
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)essv6944059
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