A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822893



Internal ID9877400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:23974806..24136170hg38UCSC Ensembl
OuterchrX:23992923..24154287hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38161365
hg19161365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740010
Supporting Variants
SamplesSSM079
Known GenesEIF2S3, KLHL15
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)essv6822893
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