A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740547



Internal ID9974890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143506919..143715779hg38UCSC Ensembl
OuterchrX:142594742..142798873hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38208861
hg19204132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850015, essv6680922, essv6975775, essv6795234, essv6727645, essv6682632, essv6743522, essv6698272, essv6931045, essv6826955, essv6822923, essv6808823, essv6915534, essv6939578, essv6687724, essv6708899, essv6767958, essv6892732, essv6837945, essv6800032, essv6911872, essv6957946, essv6749152, essv6908164, essv6944074, essv6684459, essv6802977, essv6927310, essv6731402, essv6826956, essv6952478, essv6890667, essv6933062, essv6723799, essv6757764, essv6719989, essv6752025
SamplesSSM059, SSM083, SSM071, SSM075, SSM045, SSM046, SSM064, SSM079, SSM038, SSM097, SSM009, SSM073, SSM041, SSM057, SSM023, SSM047, SSM029, SSM026, SSM019, SSM035, SSM003, SSM044, SSM014, SSM086, SSM033, SSM020, SSM015, SSM016, SSM053, SSM005, SSM080, SSM022, SSM025, SSM034, SSM056, SSM012
Known GenesSLITRK4, SPANXN2, SPANXN3
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)esv2740547
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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