A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748974



Internal ID9983258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61924924..61925263hg38UCSC Ensembl
Outerchr1:62390596..62390935hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813202, essv6832635, essv6699636, essv6892356, essv6847083, essv6686182, essv6906132, essv6853294, essv6707292, essv6864001, essv6773479, essv6718196, essv6804436, essv6669012, essv6954811, essv6961628, essv6669543, essv6844177, essv6859236, essv6780926, essv6889040, essv6825022, essv6821226, essv6801648, essv6941834, essv6807407, essv6675239, essv6972430, essv6902579, essv6722040, essv6840013, essv6967979, essv6816627, essv6797496, essv6886010, essv6880454
SamplesSSM027, SSM075, SSM045, SSM011, SSM079, SSM087, SSM097, SSM039, SSM013, SSM073, SSM074, SSM088, SSM041, SSM023, SSM028, SSM084, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM066, SSM068, SSM072, SSM082, SSM078, SSM005, SSM080, SSM077, SSM098
Known GenesINADL
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)esv2748974
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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