A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600850



Internal ID6641108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67487220..67488295hg38UCSC Ensembl
Innerchr4:67487220..67488295hg38UCSC Ensembl
Outerchr4:67486937..67488594hg38UCSC Ensembl
chr4:68352938..68354013hg19UCSC Ensembl
Innerchr4:68352938..68354013hg19UCSC Ensembl
Outerchr4:68352655..68354312hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11476673, essv11476684, essv11476689, essv11476678, essv11476686, essv11476652, essv11476679, essv11476667, essv11476644, essv11476666, essv11476659, essv11476642, essv11476646, essv11476683, essv11476665, essv11476658, essv11476664, essv11476671, essv11476647, essv11476690, essv11476668, essv11476677, essv11476680, essv11476650, essv11476653, essv11476687, essv11476691, essv11476655, essv11476643, essv11476649, essv11476661, essv11476672, essv11476657, essv11476656, essv11476662, essv11476660, essv11476688, essv11476670, essv11476651, essv11476675, essv11476654, essv11476663, essv11476685, essv11476674, essv11476645, essv11476669, essv11476648, essv11476681, essv11476682, essv11476676
SamplesHG02574, HG02583, HG03052, HG01885, HG02702, HG03111, NA18881, HG02798, HG02804, HG01924, NA18519, HG03086, HG02811, HG02810, HG02325, HG03485, HG02489, HG02143, NA20896, NA19137, NA21107, HG02477, NA19451, HG03048, HG01879, NA18516, HG02878, HG01889, HG02757, HG03382, HG03476, NA21141, NA18499, HG03078, HG03571, HG01286, NA19318, HG02586, NA21142, HG01956, NA19436, HG02722, HG02813, NA19334, HG02839, HG02814, HG03432, NA19468, NA19121, NA18511
Known GenesCENPC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600850
Frequency
Sample Size2504
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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