A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749743



Internal ID9984027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:58620619..58621101hg38UCSC Ensembl
Outerchr15:58912818..58913300hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681951, essv6974662, essv6691945, essv6924757, essv6851858, essv6749977, essv6885350, essv6758510, essv6775820, essv6909275, essv6837743, essv6942374, essv6901704, essv6695996, essv6879779, essv6688612, essv6835258, essv6803788, essv6815804, essv6717204, essv6897944, essv6900928, essv6869364, essv6747146, essv6940763, essv6713356, essv6685437, essv6741464, essv6857851, essv6728697, essv6891622, essv6928272, essv6783980, essv6912994, essv6945419, essv6842866, essv6721089, essv6673831, essv6709832, essv6867679, essv6953672, essv6768814, essv6678227, essv6706569, essv6862887, essv6772484, essv6809701, essv6888309, essv6895023, essv6776077, essv6806691, essv6959964, essv6876991, essv6920644, essv6882639, essv6911308, essv6792268, essv6665307, essv6828115
SamplesSSM010, SSM065, SSM022, SSM007, SSM092, SSM082, SSM086, SSM036, SSM055, SSM033, SSM084, SSM099, SSM042, SSM040, SSM043, SSM088, SSM089, SSM064, SSM031, SSM035, SSM025, SSM032, SSM094, SSM097, SSM041, SSM077, SSM012, SSM093, SSM100, SSM056, SSM017, SSM011, SSM066, SSM029, SSM003, SSM095, SSM073, SSM002, SSM037, SSM034, SSM087, SSM046, SSM019, SSM096, SSM023, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM059, SSM070, SSM080
Known GenesADAM10
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)esv2749743
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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