A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740488



Internal ID10324124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:134787907..134788540hg38UCSC Ensembl
OuterchrX:133921937..133922570hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38634
hg19634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765341, essv6732843, essv6856033, essv6878991, essv6791091, essv6731399, essv6927305, essv6935291, essv6900103, essv6948354, essv6799988, essv6975766, essv6964592, essv6705558, essv6743519, essv6752017, essv6965583, essv6802973, essv6671929, essv6694764, essv6861497, essv6740439, essv6850005, essv6757759, essv6841756, essv6866238, essv6931037, essv6811717, essv6765576, essv6680918, essv6957936, essv6760440, essv6737366
SamplesSSM100, SSM059, SSM008, SSM027, SSM024, SSM087, SSM009, SSM073, SSM093, SSM050, SSM088, SSM057, SSM084, SSM021, SSM047, SSM061, SSM029, SSM026, SSM089, SSM019, SSM031, SSM086, SSM033, SSM040, SSM020, SSM007, SSM053, SSM037, SSM076, SSM070, SSM004, SSM052, SSM063
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)esv2740488
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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