A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775044



Internal ID9834335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55212389..55212796hg38UCSC Ensembl
OuterchrX:55238822..55239229hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740183, esv2740181, esv2740175
Supporting Variants
SamplesSSM066
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)essv6775044
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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