A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641816



Internal ID6681898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11854535..11856683hg38UCSC Ensembl
Innerchr18:11854535..11856683hg38UCSC Ensembl
Outerchr18:11854338..11856926hg38UCSC Ensembl
chr18:11854534..11856682hg19UCSC Ensembl
Innerchr18:11854534..11856682hg19UCSC Ensembl
Outerchr18:11854337..11856925hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15809854, essv15809849, essv15809846, essv15809842, essv15809848, essv15809858, essv15809847, essv15809834, essv15809833, essv15809855, essv15809850, essv15809844, essv15809856, essv15809843, essv15809851, essv15809852, essv15809840, essv15809841, essv15809839, essv15809845, essv15809835, essv15809837, essv15809838, essv15809836, essv15809857, essv15809853
SamplesNA19248, NA12043, NA19317, HG02497, HG02760, HG03485, NA19043, HG02588, NA19428, NA19239, NA19984, HG03054, NA19471, NA19440, NA19908, NA20291, HG03297, HG02947, HG02629, HG02144, NA19446, HG03074, HG03259, HG02464, NA19473, NA18881
Known GenesGNAL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641816
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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