A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740489



Internal ID10324125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:134788135..134788334hg38UCSC Ensembl
OuterchrX:133922165..133922364hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856033, essv6878991, essv6900103, essv6694764, essv6861497, essv6850005, essv6841756, essv6866238, essv6811717, essv6957936
SamplesSSM100, SSM087, SSM093, SSM088, SSM084, SSM026, SSM089, SSM086, SSM037, SSM076
Known GenesFAM122B
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)esv2740489
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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