A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2749743

Internal ID9984027
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:58620619..58621101hg38UCSC Ensembl
Outerchr15:58912818..58913300hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2749743
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0

Hosted by The Centre for Applied Genomics
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