A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732540



Internal ID9966859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:106535758..106536058hg38UCSC Ensembl
Outerchr6:106983633..106983933hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939095, essv6893602, essv6860956, essv6865674, essv6676647, essv6727190, essv6907654, essv6957127, essv6974905, essv6926880, essv6849245, essv6963842, essv6887069, essv6687313, essv6918910, essv6684055, essv6671208, essv6943514, essv6694229, essv6826474, essv6869824, essv6818319, essv6811383, essv6855339
SamplesSSM027, SSM046, SSM087, SSM088, SSM023, SSM090, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM031, SSM014, SSM086, SSM078, SSM080, SSM037, SSM076, SSM022, SSM034, SSM098
Known GenesAIM1
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)esv2732540
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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