A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900103



Internal ID10294610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:134788144..134788327hg38UCSC Ensembl
OuterchrX:133922174..133922357hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740488, esv2740487, esv2740489
Supporting Variants
SamplesSSM100
Known GenesFAM122B
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)essv6900103
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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