A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799977



Internal ID10004674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130631882..130632324hg38UCSC Ensembl
OuterchrX:129765856..129766298hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740477
Supporting Variants
SamplesSSM009
Known GenesENOX2
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)essv6799977
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