A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737160



Internal ID9971496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72875508..72881586hg38UCSC Ensembl
Outerchr8:73787743..73793821hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386079
hg196079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900181, essv6755062, essv6803053, essv6958166, essv6827069, essv6740537, essv6952598, essv6737447, essv6766576, essv6975990, essv6873256, essv6856229, essv6935430, essv6782905, essv6771460, essv6944213, essv6904354, essv6823024, essv6811789, essv6970109, essv6830653, essv6890761, essv6915625, essv6893687, essv6911982, essv6749233, essv6894103, essv6884689, essv6757847, essv6919541, essv6752113, essv6939694, essv6834368, essv6860797, essv6795370, essv6778851, essv6687812, essv6707587, essv6904785, essv6801010, essv6814906, essv6694880, essv6948443, essv6861630, essv6760539, essv6866367, essv6763005, essv6818962, essv6808908, essv6691078, essv6830760, essv6734801, essv6677197, essv6791216, essv6964770, essv6775163, essv6966539, essv6841869, essv6934007, essv6850196, essv6705668, essv6887527, essv6720092, essv6667913, essv6897204, essv6683399, essv6799566, essv6684561, essv6712458, essv6684487, essv6723901
SamplesSSM100, SSM059, SSM036, SSM008, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM079, SSM065, SSM087, SSM097, SSM013, SSM009, SSM073, SSM050, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM084, SSM021, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM035, SSM032, SSM003, SSM067, SSM044, SSM001, SSM086, SSM066, SSM006, SSM068, SSM081, SSM040, SSM072, SSM082, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM052, SSM098, SSM049, SSM056, SSM030, SSM012
Known GenesKCNB2
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)esv2737160
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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