A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723127



Internal ID10306763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10752089..10754856hg38UCSC Ensembl
Outerchr21:10757601..10760368hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382768
hg192768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv694e201
Supporting Variantsessv6703726, essv6733380, essv6747694, essv6950409, essv6836050, essv6917298, essv6843044, essv6967736, essv6902411, essv6874613, essv6885898, essv6824840, essv6733378, essv6846877, essv6821056, essv6868618, essv6675051, essv6937534, essv6972152, essv6902410, essv6721869, essv6804324, essv6902412, essv6675052, essv6917297, essv6901518, essv6773325, essv6941641, essv6902413, essv6895745, essv6714111, essv6950410, essv6898517, essv6885899, essv6747696, essv6804326, essv6797316, essv6913872, essv6913871, essv6954558, essv6784847, essv6967738, essv6666756, essv6776806, essv6846874, essv6954557, essv6780719, essv6915952, essv6915963, essv6807283, essv6718038, essv6810261, essv6967746, essv6921600, essv6898519, essv6941642
SamplesSSM100, SSM071, SSM027, SSM024, SSM075, SSM079, SSM065, SSM039, SSM073, SSM074, SSM042, SSM002, SSM028, SSM021, SSM047, SSM029, SSM089, SSM017, SSM031, SSM067, SSM044, SSM066, SSM085, SSM068, SSM082, SSM015, SSM078, SSM016, SSM022, SSM010, SSM091, SSM055, SSM095, SSM025, SSM099, SSM043, 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)esv2723127
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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