A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740147



Internal ID9974489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48208589..48317202hg38UCSC Ensembl
OuterchrX:48068024..48176637hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38108614
hg19108614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964551, essv6765314, essv6740402, essv6944021, essv6690928, essv6927273, essv6829531, essv6746286, essv6939536, essv6734688, essv6757725, essv6849927, essv6892332, essv6908106, essv6732476, essv6915510, essv6930999, essv6876109, essv6975697, essv6674154, essv6731359, essv6841735, essv6866204, essv6855971
SamplesSSM010, SSM022, SSM007, SSM027, SSM092, SSM086, SSM036, SSM055, SSM084, SSM089, SSM020, SSM016, SSM001, SSM012, SSM029, SSM047, SSM063, SSM087, SSM019, SSM023, SSM052, SSM014, SSM049, SSM059
Known GenesSSX1, SSX9
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)esv2740147
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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