A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6830684



Internal ID9884412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148547051..148547427hg38UCSC Ensembl
OuterchrX:147628572..147628948hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740588, esv2740589
Supporting Variants
SamplesSSM081
Known GenesAFF2
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)essv6830684
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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