A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965539



Internal ID9645110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119286368..119340534hg38UCSC Ensembl
OuterchrX:118420331..118474497hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3854167
hg1954167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740426
Supporting Variants
SamplesSSM004
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)essv6965539
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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