A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740433



Internal ID5051165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119597575..119597827hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6701644, essv6826942, essv6834262
SamplesSSM082, SSM039, SSM080
Known GenesLAMP2
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2740433
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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