A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736152



Internal ID9970484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46147796..46854300hg38UCSC Ensembl
Outerchr10:46698486..47330067hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38706505
hg19631582
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, essv6799883, essv6724190, essv6702113, essv6863120, essv6948737, essv6819313, essv6768258, essv6720379, essv6827382, essv6787438, essv6915857, essv6842140, essv6915858, essv6908542, essv6803258, essv6695211, essv6681292, essv6677509, essv6688038, essv6908543, essv6958728, essv6856701, essv6677510, essv6698533, essv6760725, essv6787437, essv6783227, essv6791523, essv6791524, essv6944558, essv6709238, essv6838323, essv6760724, essv6976568, essv6904621, essv6890989, essv6783226, essv6866746, essv6769043, essv6936307, essv6861994, essv6897415, essv6834609, essv6771765, essv6755287, essv6944557, essv6912283, essv6688037, essv6795706, essv6968729, essv6927666, essv6698532, essv6672645, essv6731796, essv6908541, essv6958727, essv6799884, 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
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)esv2736152
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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