A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855934



Internal ID9907137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:9792021..9792123hg38UCSC Ensembl
OuterchrX:9760061..9760163hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739958, esv2739957, esv2739959
Supporting Variants
SamplesSSM087
Known GenesSHROOM2
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)essv6855934
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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