A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900096



Internal ID10294616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:109212514..109212709hg38UCSC Ensembl
OuterchrX:108455743..108455938hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740379, esv2740378
Supporting Variants
SamplesSSM100
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)essv6900096
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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