A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6680908



Internal ID10097115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:109212566..109212767hg38UCSC Ensembl
OuterchrX:108455795..108455996hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740379, esv2740378
Supporting Variants
SamplesSSM033
Known Genes
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)essv6680908
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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