A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849903



Internal ID9901708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:23974798..24136060hg38UCSC Ensembl
OuterchrX:23992915..24154177hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38161263
hg19161263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740010
Supporting Variants
SamplesSSM086
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)essv6849903
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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