A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739963



Internal ID5050695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11234953..11657626hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6829364, essv6765302, essv6731343, essv6778717
SamplesSSM010, SSM067, SSM047, SSM063
Known GenesAMELX, ARHGAP6
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2739963
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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