A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714751



Internal ID9949036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91448528..91448998hg38UCSC Ensembl
Outerchr1:91914085..91914555hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813224, essv6880477, essv6785209, essv6843945, essv6697034, essv6689313, essv6917296, essv6868771, essv6682884, essv6895902, essv6777000, essv6742200, essv6864043, essv6902600, essv6921797, essv6892390, essv6874766, essv6669777, essv6707315, essv6756603, essv6844476, essv6853343, essv6950628, essv6722063, essv6917502, essv6714308, essv6941857, essv6925758, essv6877398, essv6807436, essv6719364, essv6871769, essv6946558, essv6801671, essv6773507, essv6954859, essv6832663, essv6785068, essv6816672, essv6961670, essv6859273, essv6898664, essv6789225, essv6699669, essv6883303, essv6669069, essv6836255, essv6718222, essv6686212, essv6692846, essv6817242, essv6877716, essv6729692, essv6769591, essv6950795, essv6930150, essv6886037, essv6840037, essv6804460, essv6738873, essv6793366, essv6821262, essv6914053
SamplesSSM100, SSM059, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM088, SSM041, SSM023, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM066, SSM085, SSM082, SSM007, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, 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)esv2714751
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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