A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736758



Internal ID9971090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23549669..23550317hg38UCSC Ensembl
Outerchr8:23407182..23407830hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38649
hg19649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861579, essv6856159, essv6766209, essv6908217, essv6966228, essv6799518, essv6778816, essv6800654, essv6723869, essv6827027, essv6830409, essv6919504, essv6808877, essv6672057, essv6691036, essv6682376, essv6683077, essv6771427, essv6740502, essv6927371, essv6958094, essv6887483, essv6768015, essv6680989, essv6755026, essv6720060, essv6923649, essv6752079, essv6694846, essv6915594, essv6931129, essv6677159, essv6876190, essv6708957, essv6933674, essv6743574, essv6970066, essv6893288, essv6716143
SamplesSSM010, SSM065, SSM092, SSM053, SSM036, SSM033, SSM043, SSM088, SSM064, SSM031, SSM072, SSM020, SSM016, SSM057, SSM001, SSM032, SSM045, SSM067, SSM041, SSM005, SSM012, SSM017, SSM009, SSM028, SSM003, SSM037, SSM087, SSM019, SSM096, SSM052, SSM044, SSM004, SSM075, SSM026, SSM014, SSM008, SSM018, SSM058, SSM080
Known GenesSLC25A37
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)esv2736758
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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