A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672114



Internal ID9591533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89579473..89579559hg38UCSC Ensembl
Outerchr16:89579434..89579616hg38UCSC Ensembl
Innerchr16:89645881..89645967hg19UCSC Ensembl
Outerchr16:89645842..89646024hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6313741, essv5949995, essv6308648, essv6037529, essv5573674, essv5748620, essv5609201, essv5617997, essv5875380, essv5725534, essv6425372, essv6589975, essv6493008, essv5866828, essv5936213, essv6095975, essv6102865, essv6262543, essv5989079, essv6294639, essv6208865, essv5902261, essv6347875, essv6160929, essv6207792, essv5691756, essv5514601, essv5665669, essv5467341, essv6368445, essv6174509, essv5658835, essv5871643, essv6258860, essv5477033, essv5541423, essv5465987, essv5846388, essv6589605, essv6370705, essv6432956, essv6514313, essv6183599, essv6087696, essv5532849, essv5481298, essv6191000, essv5634754, essv5890581, essv6562264, essv5714141, essv6375661, essv5689046, essv5616518, essv6111987, essv6558483, essv6474269, essv5815562, essv6506986, essv5890251, essv6469903, essv5823051, essv5458924, essv6283144, essv5969429, essv5812532, essv6376741, essv5665829, essv6458791, essv6582121, essv6218312, essv6009531, essv6071528, essv5690064, essv5509392, essv5476457
SamplesNA19248, NA12154, NA20787, NA20771, NA18951, NA20809, NA20503, HG00310, NA19072, NA06989, NA20802, NA20775, NA20808, NA20816, NA20786, NA20805, NA20521, NA20770, HG00543, NA20761, NA19067, NA19085, NA20819, NA12383, NA11994, NA18635, NA20811, NA19471, NA19107, NA20801, NA20807, NA18636, NA11933, NA20765, NA19256, NA19056, NA12777, NA20773, NA19055, NA20769, NA19189, NA20536, NA12778, NA20826, NA18986, NA19005, NA19713, NA20814, NA18487, NA19347, NA20774, NA20828, NA20815, NA20797, NA20582, NA20813, NA18985, NA18543, NA12890, NA20525, NA18567, NA19078, NA12413, NA12889, NA18631, NA18577, NA11830, NA12003, NA20810, HG00144, NA12842, NA18984, HG00119, NA20804, NA20806, NA12775
Known GenesCPNE7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672114
Frequency
Sample Size1151
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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