A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6944008



Internal ID9705906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:23974807..24136140hg38UCSC Ensembl
OuterchrX:23992924..24154257hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38161334
hg19161334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740010
Supporting Variants
SamplesSSM023
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)essv6944008
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