A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606911



Internal ID6993846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137845613..137852312hg38UCSC Ensembl
Innerchr5:137845613..137852312hg38UCSC Ensembl
Outerchr5:137845244..137852791hg38UCSC Ensembl
chr5:137181302..137188001hg19UCSC Ensembl
Innerchr5:137181302..137188001hg19UCSC Ensembl
Outerchr5:137180933..137188480hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12075610, essv12075634, essv12075660, essv12075658, essv12075655, essv12075653, essv12075664, essv12075667, essv12075622, essv12075602, essv12075606, essv12075627, essv12075607, essv12075611, essv12075666, essv12075632, essv12075645, essv12075665, essv12075619, essv12075605, essv12075603, essv12075631, essv12075652, essv12075620, essv12075656, essv12075626, essv12075613, essv12075642, essv12075604, essv12075661, essv12075630, essv12075625, essv12075624, essv12075659, essv12075646, essv12075612, essv12075618, essv12075636, essv12075637, essv12075651, essv12075617, essv12075641, essv12075616, essv12075623, essv12075638, essv12075657, essv12075629, essv12075640, essv12075615, essv12075621, essv12075663, essv12075635, essv12075647, essv12075608, essv12075654, essv12075601, essv12075650, essv12075649, essv12075639, essv12075609, essv12075628, essv12075644, essv12075662, essv12075643, essv12075614, essv12075633, essv12075648
SamplesNA20874, NA20877, NA12273, HG03821, HG03237, HG02661, NA21092, HG03607, HG02050, NA21115, NA21137, HG03792, HG03679, HG03680, HG03754, NA20890, HG04042, HG03913, HG03736, HG03917, HG02786, HG04214, HG03968, HG03888, HG03624, HG03947, HG03750, NA19789, HG03784, HG03862, HG01124, NA20854, HG03697, HG00282, HG04062, HG03760, NA20885, HG04162, HG04035, HG03775, NA21116, HG01073, HG01707, HG03953, NA19761, HG03672, HG03774, HG04093, HG01589, HG03694, HG03866, HG03790, HG04006, HG02682, HG00136, NA20804, NA21123, HG03727, HG04003, HG01862, NA19759, HG02700, HG04140, HG03977, NA21102, HG03985, HG03698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606911
Frequency
Sample Size2504
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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