A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745687



Internal ID9979971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29420451..29420804hg38UCSC Ensembl
Outerchr12:29573384..29573737hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834909, essv6783563, essv6812218, essv6916125, essv6677817, essv6870738, essv6940344, essv6927938, essv6891283, essv6953229, essv6724497, essv6944956, essv6857196, essv6819689, essv6787757, essv6779460, essv6791855, essv6691605, essv6931845, essv6673153, essv6827696, essv6879493, essv6867157, essv6865654, essv6732131, essv6851179, essv6885088, essv6862381, essv6695541, essv6977182, essv6681572, essv6894646, essv6768506, essv6959264, essv6970803, essv6728332, essv6924348, essv6882313, essv6698751, essv6834883, essv6712990, essv6831308, essv6688292, essv6800216, essv6823622, essv6971374, essv6949097, essv6908881
SamplesSSM036, SSM024, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM093, SSM042, SSM088, SSM023, SSM028, SSM090, SSM047, SSM018, SSM069, SSM029, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM014, SSM086, SSM033, SSM068, SSM081, SSM072, SSM082, SSM020, SSM078, SSM016, SSM080, SSM037, SSM076, SSM022, SSM010, SSM070, SSM095, SSM025, SSM004, SSM098
Known GenesOVCH1-AS1
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)esv2745687
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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