A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799476



Internal ID9656953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:21858267..21859586hg38UCSC Ensembl
OuterchrX:21876385..21877704hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg381320
hg191320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740003
Supporting Variants
SamplesSSM009
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)essv6799476
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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