A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740148



Internal ID9974490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48208603..48238414hg38UCSC Ensembl
OuterchrX:48068038..48097849hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3829812
hg1929812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731359, essv6975697, essv6964551, essv6944021, essv6939536, essv6849927, essv6892332, essv6740402, essv6855971, essv6674154, essv6876109, essv6765314, essv6927273, essv6732476, essv6915510, essv6746286, essv6734688, essv6757725, essv6841735, essv6690928, essv6829531
SamplesSSM059, SSM036, SSM027, SSM087, SSM023, SSM092, SSM084, SSM047, SSM029, SSM019, SSM001, SSM086, SSM007, SSM016, SSM022, SSM010, SSM055, SSM052, SSM049, SSM063, SSM012
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)esv2740148
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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