A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767958



Internal ID9827989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143512499..143715814hg38UCSC Ensembl
OuterchrX:142600328..142798908hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38203316
hg19198581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740547
Supporting Variants
SamplesSSM064
Known GenesSLITRK4, SPANXN2, SPANXN3
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)essv6767958
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