A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740426



Internal ID9974769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119286368..119340535hg38UCSC Ensembl
OuterchrX:118420331..118474498hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3854168
hg1954168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712350, essv6694760, essv6903974, essv6743515, essv6965539
SamplesSSM042, SSM002, SSM053, SSM037, SSM004
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)esv2740426
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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