A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644656



Internal ID6684722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50827096..50830671hg38UCSC Ensembl
chr19:51330352..51333927hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383576
hg193576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16078704, essv16078722, essv16078685, essv16078718, essv16078712, essv16078720, essv16078728, essv16078697, essv16078659, essv16078687, essv16078671, essv16078726, essv16078725, essv16078689, essv16078680, essv16078673, essv16078660, essv16078683, essv16078665, essv16078708, essv16078716, essv16078678, essv16078664, essv16078719, essv16078723, essv16078679, essv16078703, essv16078711, essv16078696, essv16078729, essv16078709, essv16078698, essv16078702, essv16078699, essv16078653, essv16078670, essv16078727, essv16078714, essv16078690, essv16078724, essv16078656, essv16078717, essv16078654, essv16078681, essv16078676, essv16078668, essv16078693, essv16078691, essv16078666, essv16078667, essv16078731, essv16078730, essv16078688, essv16078710, essv16078674, essv16078694, essv16078663, essv16078695, essv16078684, essv16078672, essv16078658, essv16078655, essv16078707, essv16078662, essv16078682, essv16078675, essv16078701, essv16078657, essv16078713, essv16078721, essv16078669, essv16078705, essv16078692, essv16078661, essv16078715, essv16078677, essv16078700, essv16078686, essv16078706
SamplesHG00121, NA12842, NA21111, HG01624, HG04060, HG02648, HG01374, NA19684, NA12400, HG01704, HG01051, NA19374, HG01325, NA19678, NA19307, HG01083, HG03910, HG00335, NA20819, NA20775, HG02224, HG01757, HG01405, HG03225, NA20515, HG01312, NA19657, HG00266, HG01200, NA12342, HG02697, NA19327, NA20314, NA19663, HG03711, HG00263, NA20519, HG01607, HG02221, HG01049, HG03823, HG01414, NA19655, HG00350, HG00117, HG01101, HG01403, HG01988, HG01530, NA19652, HG03028, HG03848, HG02667, HG02546, NA12272, HG01685, NA20778, NA19786, NA20803, HG03703, NA19785, HG02095, NA20510, NA20807, NA20826, NA19316, NA19312, NA20763, NA12890, NA20827, NA20585, HG01112, HG01097, HG01776, HG01191, HG01695, HG00553, HG03166, HG01608
Known GenesKLK15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644656
Frequency
Sample Size2504
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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