A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765304



Internal ID9825570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:24083333..24083783hg38UCSC Ensembl
OuterchrX:24101450..24101900hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740010, esv2740011
Supporting Variants
SamplesSSM063
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)essv6765304
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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