A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643776



Internal ID6683846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15672308..15725395hg38UCSC Ensembl
chr19:15783118..15836205hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3853088
hg1953088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16000667, essv16000661, essv16000698, essv16000684, essv16000682, essv16000657, essv16000695, essv16000703, essv16000665, essv16000648, essv16000663, essv16000647, essv16000693, essv16000655, essv16000686, essv16000671, essv16000690, essv16000683, essv16000646, essv16000677, essv16000645, essv16000673, essv16000680, essv16000692, essv16000668, essv16000659, essv16000678, essv16000691, essv16000641, essv16000700, essv16000687, essv16000696, essv16000674, essv16000662, essv16000638, essv16000694, essv16000699, essv16000649, essv16000670, essv16000636, essv16000672, essv16000702, essv16000664, essv16000644, essv16000685, essv16000675, essv16000697, essv16000652, essv16000701, essv16000640, essv16000642, essv16000660, essv16000658, essv16000637, essv16000676, essv16000681, essv16000656, essv16000650, essv16000679, essv16000643, essv16000639, essv16000653, essv16000651, essv16000689, essv16000669, essv16000688, essv16000654, essv16000666
SamplesHG02614, HG03096, HG02496, NA18924, NA18508, HG03163, HG02973, HG03517, NA18881, NA19350, NA20298, HG03295, HG03069, HG02769, NA19171, HG02810, HG03499, HG02485, HG02325, NA19198, HG03485, HG02620, NA18916, NA19384, NA19137, HG03045, NA19317, HG01176, NA19456, NA20127, NA19247, HG03291, NA18516, HG01142, HG02508, HG02817, HG03451, HG01705, HG02256, NA18523, HG01990, HG01896, HG02772, HG03461, HG02010, NA18865, HG02464, HG02580, HG03103, HG02771, NA19117, HG03442, NA20334, HG02013, NA19116, NA19711, HG03077, HG01468, HG03538, NA19030, HG03162, NA18505, HG02855, NA19312, HG03072, HG01886, NA19346, HG03265
Known GenesCYP4F12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643776
Frequency
Sample Size2504
Observed Gain68
Observed Loss0
Observed Complex0
Frequencyn/a


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