A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720725



Internal ID10304361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126971244..126972145hg38UCSC Ensembl
Outerchr2:127728820..127729721hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726219, essv6793703, essv6787810, essv6929493, essv6892657, essv6829348, essv6880054, essv6832937, essv6679548, essv6933718, essv6968364, essv6704190, essv6777313, essv6693194, essv6686464, essv6773804, essv6718519, essv6689624, essv6847198, essv6942232, essv6973037, essv6825385, essv6797858, essv6950946, essv6722357, essv6781283, essv6789568, essv6877937, essv6710954, essv6700022, essv6707604, essv6821548, essv6914303, essv6752009, essv6886256, essv6675568, essv6910443, essv6847617, essv6898904, essv6926020, essv6880695, essv6714624, essv6902886, essv6922137, essv6962153, essv6807669, essv6729985, essv6804711, essv6896105, essv6683149, essv6813492, essv6785404, essv6869010, essv6801904, essv6917832, essv6938072, essv6853806, essv6840355, essv6872011, essv6769910, essv6819475, essv6955394, essv6946872, essv6672044, essv6875005
SamplesSSM100, SSM036, SSM008, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM067, SSM044, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM070, SSM025, SSM034, 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)esv2720725
Frequency
Sample Size96
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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