A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694774



Internal ID9763840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153541889..153542279hg38UCSC Ensembl
OuterchrX:152807347..152807737hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740632
Supporting Variants
SamplesSSM037
Known GenesATP2B3
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)essv6694774
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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