A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814788



Internal ID10216791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:105947174..105947465hg38UCSC Ensembl
OuterchrX:105191166..105191457hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740368
Supporting Variants
SamplesSSM077
Known GenesNRK
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)essv6814788
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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