A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662305



Internal ID9581724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53958462..53962068hg38UCSC Ensembl
Outerchr19:53958091..53962438hg38UCSC Ensembl
Innerchr19:54461716..54465322hg19UCSC Ensembl
Outerchr19:54461345..54465692hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv662e199
Supporting Variantsessv5781154, essv6103936, essv5709064, essv6166513, essv5502689, essv6317034, essv5583451, essv6334544, essv5993537, essv6355529, essv5929745, essv5829731, essv5623158, essv5520180, essv5645646, essv6510534, essv5837156, essv6410315, essv6247475, essv5770028, essv6513416, essv5706241, essv5873914, essv6443964, essv6096965, essv6242052, essv6290740, essv6377039, essv6325335, essv6292392, essv5667144, essv5903067, essv5553770, essv5608814, essv5750051, essv5662655, essv6483018, essv6462716, essv6104078, essv6486243, essv6299879, essv6123748, essv6340062, essv5685359, essv5660039, essv6417554, essv5468221, essv6262182, essv5857039, essv6080052, essv5634572, essv6479909, essv6511748, essv5825118, essv6420513, essv5665906, essv6474463
SamplesNA18621, NA18565, NA18599, NA18545, NA18596, NA18530, NA18606, NA18616, NA18633, NA18602, NA18627, NA18563, NA18550, NA18597, NA18595, NA18635, NA18567, NA18618, NA18574, NA18611, NA18560, NA18617, NA18557, NA18539, NA18638, NA18614, NA18544, NA18613, NA18538, NA18637, NA18572, NA18534, NA18630, NA18548, NA18537, NA18626, NA18553, NA18536, NA18634, NA18541, NA18546, NA18632, NA18535, NA18543, NA18559, NA18628, NA18615, NA18610, NA18631, NA18636, NA18624, NA18623, NA18612, NA18549, NA18622, NA18577, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662305
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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