A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740145



Internal ID9974487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48157543..48275136hg38UCSC Ensembl
OuterchrX:48016971..48134571hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38117594
hg19117601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964551, essv6765314, essv6740402, essv6919392, essv6765266, essv6944021, essv6690928, essv6927273, essv6829531, essv6746286, essv6939536, essv6734688, essv6757725, essv6849927, essv6667836, essv6892332, essv6732476, essv6965317, essv6915510, essv6930999, essv6757724, essv6876109, essv6674042, essv6975697, essv6674154, essv6731359, essv6841735, essv6855971
SamplesSSM010, SSM022, SSM007, SSM027, SSM092, SSM086, SSM036, SSM055, SSM084, SSM020, SSM016, SSM001, SSM012, SSM017, SSM029, SSM030, SSM047, SSM063, SSM087, SSM019, SSM023, SSM052, SSM004, SSM049, SSM008, SSM059
Known GenesSSX1, SSX5
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)esv2740145
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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