A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665959



Internal ID9932064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193514436..193514675hg38UCSC Ensembl
chr3:193232225..193232464hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6359049, essv5808306, essv6148108, essv6378011, essv5621118, essv6429822, essv6442676, essv5564232, essv5673240, essv5878246, essv5493013, essv5934503, essv6053852, essv5772333, essv5799183, essv5518695, essv5719820, essv6481827, essv5463272, essv6081884, essv5546293, essv6529483, essv5864478, essv6524022, essv6571924, essv6537041, essv5559695, essv5993313, essv6597966, essv5823431, essv6180972, essv6356847, essv5528759, essv6247213, essv6014376, essv6245782, essv5722486, essv5681491, essv5647889, essv6318227, essv5919482, essv5441063, essv6548719, essv5714066, essv6105147, essv6241561, essv6082377, essv5979124, essv5848095, essv5436136, essv6106407, essv5810774, essv6576241, essv5723229, essv5398993, essv6354906, essv5856029, essv6461481, essv6560093, essv6452466, essv5731209, essv6125480, essv6565233, essv6466974
SamplesHG00403, HG00542, NA11830, NA11995, NA18980, NA18603, NA12045, NA18486, NA12004, NA18504, HG00566, NA18530, NA18526, NA20537, NA07346, NA19068, NA19076, NA18940, HG01070, HG00689, NA18635, NA18960, NA07347, HG00683, NA11994, NA19172, HG00705, NA18557, NA18975, NA18973, NA19200, NA18638, NA11993, NA11831, NA10847, NA18544, HG00560, NA19210, NA19056, NA12878, HG00583, HG00500, NA18579, NA18566, NA19114, NA12892, NA18532, HG00525, NA19160, NA18593, NA18945, NA18953, NA18517, NA07037, HG00662, NA18610, NA06994, NA19102, NA19116, NA18552, NA18989, NA18623, NA18522, NA18562
Known GenesATP13A4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665959
Frequency
Sample Size1151
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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