A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632056



Internal ID7018866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49845986..49846932hg38UCSC Ensembl
Innerchr13:49846040..49846878hg38UCSC Ensembl
Outerchr13:49845932..49846986hg38UCSC Ensembl
chr13:50420122..50421068hg19UCSC Ensembl
Innerchr13:50420176..50421014hg19UCSC Ensembl
Outerchr13:50420068..50421122hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38947
hg19947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14725721, essv14725741, essv14725756, essv14725755, essv14725732, essv14725728, essv14725719, essv14725746, essv14725742, essv14725737, essv14725740, essv14725730, essv14725729, essv14725718, essv14725735, essv14725754, essv14725748, essv14725744, essv14725736, essv14725750, essv14725751, essv14725723, essv14725725, essv14725749, essv14725753, essv14725726, essv14725731, essv14725745, essv14725747, essv14725720, essv14725743, essv14725752, essv14725738, essv14725739, essv14725717, essv14725733, essv14725722, essv14725724, essv14725734, essv14725727
SamplesHG02386, HG00403, NA18745, NA18647, HG01031, HG03237, NA18599, HG00457, NA18633, HG03009, HG02383, NA18619, NA18558, NA18574, HG01840, NA19079, HG03803, HG01851, HG00464, HG00543, HG00596, HG02380, HG00500, NA18534, NA18537, HG00479, HG04155, HG01842, NA18608, HG00611, HG04227, NA18543, NA18559, HG00473, NA19085, NA19080, HG01794, HG00595, NA18622, NA18562
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632056
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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