A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747028



Internal ID9981312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132620676..132621263hg38UCSC Ensembl
Outerchr12:133197262..133197849hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38588
hg19588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876752, essv6768585, essv6803581, essv6787862, essv6706314, essv6823745, essv6905013, essv6831413, essv6842550, essv6939962, essv6698829, essv6800335, essv6940459, essv6677934, essv6827835, essv6728439, essv6720789, essv6870799, essv6685180, essv6891371, essv6741171, essv6945076, essv6888080, essv6724608, essv6716912, essv6908978, essv6713102, essv6691703, essv6851382, essv6931960, essv6695675, essv6924460, essv6894759, essv6673328, essv6739298, essv6702569, essv6687988, essv6949199, essv6709602, essv6920323, essv6897728, essv6838730, essv6791967, essv6779568, essv6681692, essv6732242, essv6796143, essv6783670, essv6775812, essv6806464
SamplesSSM036, SSM083, SSM071, SSM024, SSM045, SSM046, SSM064, SSM079, SSM038, SSM097, SSM039, SSM013, SSM073, SSM074, SSM042, SSM041, SSM023, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM096, SSM017, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM005, SSM080, SSM037, SSM022, SSM070, SSM034, SSM099, SSM043, SSM052, SSM098
Known GenesP2RX2
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)esv2747028
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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