A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2745687

Internal ID9979971
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29420451..29420804hg38UCSC Ensembl
Outerchr12:29573384..29573737hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6823622, essv6924348, essv6970803, essv6949097, essv6712990, essv6787757, essv6959264, essv6894646, essv6783563, essv6882313, essv6691605, essv6732131, essv6827696, essv6971374, essv6879493, essv6673153, essv6681572, essv6865654, essv6834909, essv6728332, essv6953229, essv6891283, essv6870738, essv6800216, essv6831308, essv6944956, essv6812218, essv6867157, essv6819689, essv6724497, essv6688292, essv6677817, essv6695541, essv6916125, essv6851179, essv6857196, essv6927938, essv6940344, essv6834883, essv6908881, essv6862381, essv6977182, essv6779460, essv6885088, essv6698751, essv6768506, essv6931845, essv6791855
SamplesSSM010, SSM022, SSM082, SSM086, SSM036, SSM033, SSM042, SSM078, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM016, SSM032, SSM024, SSM045, SSM067, SSM094, SSM097, SSM093, SSM011, SSM028, SSM029, SSM095, SSM047, SSM069, SSM037, SSM087, SSM038, SSM046, SSM019, SSM023, SSM079, SSM068, SSM004, SSM026, SSM014, SSM098, SSM018, SSM076, SSM081, SSM070, SSM080
Known GenesOVCH1-AS1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2745687
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0

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