A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720239



Internal ID10303875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:185403922..185404287hg38UCSC Ensembl
Outerchr1:185373054..185373419hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853441, essv6933441, essv6793438, essv6859354, essv6954961, essv6832712, essv6892445, essv6801733, essv6845065, essv6699746, essv6864128, essv6789290, essv6816757, essv6697088, essv6669169, essv6829130, essv6707370, essv6675337, essv6729752, essv6889135, essv6877943, essv6736084, essv6925816, essv6759169, essv6847237, essv6910186, essv6902662, essv6703969, essv6670299, essv6877763, essv6840097, essv6766656, essv6749776, essv6895957, essv6785127, essv6781016, essv6972599, essv6722122
SamplesSSM008, SSM071, SSM045, SSM011, SSM064, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM050, SSM088, SSM041, SSM084, SSM021, SSM047, SSM069, SSM061, SSM029, SSM026, SSM089, SSM019, SSM032, SSM031, SSM086, SSM068, SSM081, SSM040, SSM082, SSM015, SSM078, SSM005, SSM070, SSM099, SSM098, 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)esv2720239
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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