A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957836



Internal ID9719738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:21858269..21859569hg38UCSC Ensembl
OuterchrX:21876387..21877687hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740003
Supporting Variants
SamplesSSM026
Known GenesMBTPS2, YY2
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)essv6957836
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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