A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900117



Internal ID10294597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152941943..153033066hg38UCSC Ensembl
OuterchrX:152110487..152201412hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3891124
hg1990926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740625
Supporting Variants
SamplesSSM100
Known GenesPNMA5, ZNF185
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)essv6900117
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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