A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931054



Internal ID10039611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153345554..153345919hg38UCSC Ensembl
OuterchrX:152611012..152611377hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740626
Supporting Variants
SamplesSSM020
Known GenesZNF275
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)essv6931054
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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