A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900082



Internal ID9947943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:23974808..24136109hg38UCSC Ensembl
OuterchrX:23992925..24154226hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38161302
hg19161302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740010
Supporting Variants
SamplesSSM100
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)essv6900082
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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