A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660387



Internal ID9926492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13382063..13446755hg38UCSC Ensembl
Outerchr1:13382063..13447125hg38UCSC Ensembl
Innerchr1:13693216..13773222hg19UCSC Ensembl
Outerchr1:13692845..13773592hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3865063
hg1980748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e199
Supporting Variantsessv5898662, essv6250926, essv5680772, essv5690191, essv6584945, essv5845269, essv5589982, essv5927254, essv6023654, essv6438884, essv5685104, essv6391448, essv5626832, essv5524650, essv5570950, essv5913477, essv6321174, essv6456805, essv6189006, essv6548928, essv6227488, essv5729231, essv6112006, essv6180308, essv5825044, essv5687261, essv6228756, essv5963957, essv6530462, essv5413472, essv5745873, essv5645239, essv6326832, essv5634096, essv6260108, essv5504641, essv6211682, essv6321776, essv6072078, essv5957123, essv5746109, essv6271338, essv6487618, essv6061420, essv6442415, essv5910777, essv5525205, essv5901266, essv5595252, essv5945341, essv6535637, essv5853001, essv6285296, essv6202153
SamplesNA19648, NA19664, NA19777, NA19684, NA19746, NA19660, NA19762, NA19728, NA19678, NA19723, NA19771, NA19782, NA19681, NA19720, NA19651, NA19719, NA19731, NA19722, NA19725, NA19789, NA19657, NA19717, NA19663, NA19788, NA19776, NA19654, NA19774, NA19655, NA19750, NA19761, NA19682, NA19756, NA19675, NA19685, NA19729, NA19652, NA19749, NA19747, NA19732, NA19773, NA19679, NA19786, NA19783, NA19759, NA19785, NA19779, NA19716, NA19770, NA19726, NA19780, NA19661, NA19755, NA19758, NA19676
Known GenesPRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660387
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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