A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736872



Internal ID10320508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:35089421..35090162hg38UCSC Ensembl
Outerchr8:34946939..34947680hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958114, essv6799535, essv6672078, essv6975942, essv6766298, essv6915602, essv6935394, essv6705641, essv6966328, essv6948421, essv6861589, essv6731484, essv6893421, essv6694857, essv6834346, essv6733565, essv6800743, essv6952569, essv6778827, essv6771437, essv6740513, essv6723881, essv6964719, essv6791189, essv6856180, essv6904327, essv6746370, essv6737427, essv6919514, essv6749212, essv6830475, essv6752092, essv6775133, essv6873234, essv6933774, essv6691049, essv6803033, essv6768022, essv6760511
SamplesSSM036, SSM008, SSM027, SSM024, SSM045, SSM064, SSM065, SSM087, SSM013, SSM009, SSM073, SSM050, SSM088, SSM057, SSM021, SSM047, SSM061, SSM029, SSM026, SSM017, SSM003, SSM031, SSM067, SSM066, SSM040, SSM072, SSM082, SSM007, SSM016, SSM037, SSM010, SSM091, SSM055, SSM070, SSM025, SSM004, SSM052, SSM056, SSM012
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)esv2736872
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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