A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866196



Internal ID10263058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27210568..27210762hg38UCSC Ensembl
OuterchrX:27228685..27228879hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740030, esv2740031
Supporting Variants
SamplesSSM089
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)essv6866196
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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