A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2745396

Internal ID9979680
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1774811..1775049hg38UCSC Ensembl
Outerchr12:1883977..1884215hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6691557, essv6800173, essv6686965, essv6791811, essv6706174, essv6779418, essv6931791, essv6728290, essv6920116, essv6924289, essv6940288, essv6867093, essv6894606, essv6716747, essv6873636, essv6879456, essv6904876, essv6795985, essv6695503, essv6712950, essv6845916, essv6834846, essv6900611, essv6977097, essv6698723, essv6737920, essv6891242, essv6953179, essv6775658, essv6838576, essv6862325, essv6944889, essv6681529, essv6949050, essv6887978, essv6724457, essv6970851, essv6885051, essv6709450, essv6927891, essv6772012, essv6870690, essv6823584, essv6965712, essv6732081, essv6831273, essv6677771, essv6898844, essv6702408, essv6842394, essv6673092, essv6720638, essv6959194, essv6819646, essv6806347, essv6783528, essv6857133, essv6815429, essv6912548, essv6787714, essv6970756, essv6812189, essv6851103, essv6938607, essv6803470, essv6897618
SamplesSSM065, SSM022, SSM007, SSM027, SSM013, SSM082, SSM086, SSM036, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM031, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM024, SSM045, SSM067, SSM083, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM085, SSM017, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM037, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM015, SSM026, SSM098, SSM018, SSM076, SSM081, SSM070
Known GenesADIPOR2
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2745396
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0

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