A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775083



Internal ID9834371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153541868..153542319hg38UCSC Ensembl
OuterchrX:152807326..152807777hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740632
Supporting Variants
SamplesSSM066
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)essv6775083
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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