A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743964



Internal ID9978248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13111235..13120330hg38UCSC Ensembl
Outerchr1:13178707..13187803hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg389096
hg199097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972334, essv6797444, essv6843880, essv6695632, essv6725846, essv6696986, essv6843809, essv6764157, essv6669188, essv6847011, essv6906094, essv6937674, essv6669177, essv6679163, essv6784990, essv6877662, essv6868707, essv6689253, essv6885979, essv6682823, essv6921712, essv6789145, essv6707261, essv6859185, essv6682822, essv6859184, essv6847010, essv6797445, essv6742135, essv6853232, essv6753491, essv6668945, essv6880416, essv6729614, essv6889003, essv6801614, essv6750592, essv6910036, essv6950185, essv6880415, essv6703859, essv6906095, essv6725847, essv6709708, essv6916651, essv6836182, essv6735974, essv6692756, essv6807371, essv6889002, essv6714239, essv6793279, essv6718162, essv6874700, essv6868706, essv6885980, essv6863954, essv6933299, essv6807372, essv6759038, essv6946491, essv6747773, essv6946490, essv6871710, essv6722002, essv6839967, essv6917419, essv6902526, essv6824978, essv6913995, essv6748298, essv6784543, essv6821178, essv6686150, essv6876754, essv6824977, essv6689255, essv6761849
SamplesSSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM088, SSM041, SSM057, SSM058, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM089, SSM017, SSM035, SSM094, SSM003, SSM031, SSM044, SSM001, SSM014, SSM086, SSM033, SSM006, SSM085, SSM040, SSM072, SSM015, SSM016, SSM053, SSM005, SSM080, SSM037, SSM022, SSM091, SSM070, SSM034, SSM004, SSM043, SSM056, SSM063, SSM012
Known GenesHNRNPCP5
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)esv2743964
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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