A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855951



Internal ID10253839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27210568..27210714hg38UCSC Ensembl
OuterchrX:27228685..27228831hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740030, esv2740031
Supporting Variants
SamplesSSM087
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)essv6855951
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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