A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2736152

Internal ID9970484
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46147796..46854300hg38UCSC Ensembl
Outerchr10:46698486..47330067hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728022, essv6970453, essv6879270, essv6873448, essv6890990, essv6948738, essv6827381, essv6856700, essv6724190, essv6799883, essv6702113, essv6863120, essv6948737, essv6819313, essv6768258, essv6720379, essv6827382, essv6787438, essv6915857, essv6842140, essv6915858, essv6908542, essv6803258, essv6695211, essv6681292, essv6677509, essv6688038, essv6908543, essv6958728, essv6677510, essv6856701, essv6698533, essv6760725, essv6787437, essv6783227, essv6791523, essv6791524, essv6709238, essv6944558, essv6838323, essv6760724, essv6976568, essv6904621, essv6890989, essv6783226, essv6866746, essv6769043, essv6936307, essv6861994, essv6834609, essv6897415, essv6771765, essv6755287, essv6944557, essv6912283, essv6688037, essv6795706, essv6968729, essv6927666, essv6698532, essv6672645, essv6731796, essv6908541, essv6799884, essv6958727, essv6976567, essv6684817, essv6850682, essv6935779, essv6968740, essv6779148, essv6856702, essv6965267, essv6931500, essv6779149, essv6882088, essv6876423, essv6924002, essv6749445
SamplesSSM065, SSM027, SSM092, SSM013, SSM082, SSM086, SSM091, SSM033, SSM084, SSM061, SSM099, SSM078, SSM088, SSM089, SSM064, SSM031, SSM035, SSM072, SSM020, SSM071, SSM016, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM097, SSM041, SSM093, SSM056, SSM011, SSM028, SSM029, SSM003, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM023, SSM068, SSM044, SSM004, SSM015, SSM026, SSM014, SSM008, SSM018, SSM058, SSM070, SSM080
Known GenesAGAP9, ANXA8, BMS1P1, BMS1P2, BMS1P5, BMS1P6, FAM25C, FAM25G, FAM35BP, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2736152
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0

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