A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6908169



Internal ID10019186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152250951..152251031hg38UCSC Ensembl
OuterchrX:151419423..151419503hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740614, esv2740615
Supporting Variants
SamplesSSM014
Known GenesGABRA3
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)essv6908169
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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