A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737333



Internal ID10147082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:44552314..44552585hg38UCSC Ensembl
OuterchrX:44411560..44411831hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740116
Supporting Variants
SamplesSSM050
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)essv6737333
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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