A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621463



Internal ID7008332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110412887..110423226hg38UCSC Ensembl
chr9:113175167..113185506hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3810340
hg1910340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13598962, essv13598970, essv13598956, essv13598968, essv13598975, essv13598966, essv13598965, essv13598980, essv13598971, essv13598958, essv13598974, essv13598964, essv13598967, essv13598976, essv13598977, essv13598979, essv13598957, essv13598982, essv13598978, essv13598969, essv13598961, essv13598960, essv13598959, essv13598985, essv13598972, essv13598983, essv13598984, essv13598973, essv13598963, essv13598981
SamplesHG02614, HG03175, NA19092, HG03139, HG03091, NA19198, HG02505, NA19207, HG03114, HG02570, NA19984, HG03291, NA18879, NA18523, HG03354, HG02568, HG03567, HG02772, HG02455, HG03461, HG02501, HG02721, NA19773, NA19144, HG03127, NA19376, NA19351, NA19121, HG02861, NA18488
Known GenesSVEP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621463
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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