A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722262



Internal ID10305898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210121956..210122372hg38UCSC Ensembl
Outerchr1:210295301..210295717hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699773, essv6937833, essv6797617, essv6707399, essv6816786, essv6832734, essv6675361, essv6883378, essv6889149, essv6853476, essv6677487, essv6951651, essv6786020, essv6710736, essv6821340, essv6954997, essv6933469, essv6738969, essv6811709, essv6769687, essv6918063, essv6689402, essv6898743, essv6766671, essv6941970, essv6917598, essv6840115, essv6902690, essv6871843, essv6874835, essv6877786, essv6950713, essv6666990, essv6859377, essv6726007, essv6722150, essv6714403, essv6864157, essv6844017, essv6829152, essv6804540, essv6807511, essv6825144, essv6777084, essv6895974, essv6793463, essv6789316, essv6906265, essv6718307, essv6682964, essv6968102, essv6836337, essv6753637, essv6773600, essv6747916, essv6845288, essv6801751, essv6946643, essv6669212, essv6729778, essv6697111, essv6720054, essv6756669, essv6686291, essv6914121, essv6679331, essv6886103, essv6785152, essv6961799, essv6703997, essv6781040, essv6750735, essv6972638, essv6670476, essv6868848, essv6892468, essv6736106, essv6847278, essv6925838, essv6910211, essv6745069, essv6921902, essv6764288, essv6878165, essv6929231
SamplesSSM100, SSM059, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM063, SSM012
Known GenesSYT14
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)esv2722262
Frequency
Sample Size96
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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