A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739150



Internal ID9973491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133185256..133185662hg38UCSC Ensembl
Outerchr9:136060643..136061049hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912186, essv6905852, essv6879217, essv6884823, essv6724101, essv6882037, essv6698484, essv6904536, essv6791426, essv6970337, essv6927572, essv6850528, essv6834535, essv6677419, essv6845637, essv6771658, essv6842039, essv6908461, essv6873395, essv6695099, essv6727941, essv6887691, essv6783107, essv6746530, essv6712646, essv6815108, essv6691251, essv6935651, essv6862531, essv6702016, essv6944454, essv6897351, essv6787332, essv6861881, essv6799792, essv6684746, essv6823233, essv6795611, essv6684743, essv6948636, essv6870445, essv6687969, essv6735399, essv6890925, essv6856555, essv6976356, essv6716350, essv6803209, essv6765533, essv6819203, essv6768197, essv6838236, essv6709170, essv6809080, essv6672483, essv6900336, essv6866617, essv6830930, essv6734921, essv6952792, essv6811925, essv6894293
SamplesSSM100, SSM036, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM084, SSM090, SSM069, SSM029, SSM096, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM014, SSM086, SSM085, SSM068, SSM081, SSM072, SSM082, SSM007, SSM015, SSM078, SSM005, SSM037, SSM077, SSM076, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM098, SSM049, SSM063
Known Genes
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)esv2739150
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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