A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632699



Internal ID7019510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72725451..72726164hg38UCSC Ensembl
Innerchr13:72725451..72726164hg38UCSC Ensembl
Outerchr13:72725147..72726531hg38UCSC Ensembl
chr13:73299589..73300302hg19UCSC Ensembl
Innerchr13:73299589..73300302hg19UCSC Ensembl
Outerchr13:73299285..73300669hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14793706, essv14793659, essv14793630, essv14793674, essv14793638, essv14793652, essv14793655, essv14793693, essv14793646, essv14793636, essv14793647, essv14793644, essv14793701, essv14793631, essv14793689, essv14793675, essv14793628, essv14793639, essv14793642, essv14793681, essv14793666, essv14793697, essv14793662, essv14793627, essv14793650, essv14793713, essv14793649, essv14793716, essv14793661, essv14793653, essv14793708, essv14793690, essv14793707, essv14793633, essv14793680, essv14793712, essv14793629, essv14793658, essv14793673, essv14793663, essv14793678, essv14793641, essv14793682, essv14793698, essv14793699, essv14793684, essv14793677, essv14793700, essv14793640, essv14793654, essv14793694, essv14793718, essv14793688, essv14793710, essv14793670, essv14793672, essv14793665, essv14793686, essv14793717, essv14793715, essv14793667, essv14793637, essv14793676, essv14793719, essv14793683, essv14793679, essv14793696, essv14793632, essv14793668, essv14793645, essv14793705, essv14793702, essv14793687, essv14793709, essv14793711, essv14793656, essv14793669, essv14793671, essv14793685, essv14793691, essv14793648, essv14793695, essv14793660, essv14793714, essv14793692, essv14793664, essv14793634, essv14793704, essv14793643, essv14793703, essv14793657, essv14793651, essv14793635
SamplesNA18745, HG02072, HG00559, HG01031, HG01860, NA18599, HG00457, NA18641, NA18639, HG02017, HG02058, HG02394, NA18526, HG02023, HG00693, HG00663, HG00717, NA18595, HG00599, NA18618, HG02130, HG02085, HG00851, HG01840, NA18970, HG00867, HG02512, HG02067, NA18748, HG02082, NA18990, HG02073, HG01844, HG02134, HG00543, HG01847, HG01595, HG02345, NA19077, HG00428, HG03760, HG02057, NA18644, HG00701, HG02390, HG00583, HG00500, HG02522, HG01852, NA19064, NA19000, NA18626, HG01870, NA18946, HG00525, NA18553, NA18555, HG02031, NA18570, HG00410, HG02408, NA19012, HG01858, NA18533, HG01597, HG00625, HG01874, NA19090, HG01866, NA18643, HG00620, HG02133, HG00478, HG02401, HG02367, HG01804, NA19060, HG00656, HG02396, HG02116, HG02113, NA18609, HG02410, HG02182, HG01872, HG00728, NA18984, HG02028, NA18989, NA18624, HG00759, HG01805, NA18965
Known GenesMZT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632699
Frequency
Sample Size2504
Observed Gain0
Observed Loss93
Observed Complex0
Frequencyn/a


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