A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6908100



Internal ID10019248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:34155274..34477282hg38UCSC Ensembl
OuterchrX:34173391..34495399hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38322009
hg19322009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740080
Supporting Variants
SamplesSSM014
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)essv6908100
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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