A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641577



Internal ID6681662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2848283..2849526hg38UCSC Ensembl
Innerchr18:2848286..2849524hg38UCSC Ensembl
Outerchr18:2848281..2849529hg38UCSC Ensembl
chr18:2848281..2849524hg19UCSC Ensembl
Innerchr18:2848284..2849522hg19UCSC Ensembl
Outerchr18:2848279..2849527hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381244
hg191244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15778434, essv15778437, essv15778436, essv15778435, essv15778438
SamplesHG02536, HG02840, HG02582, HG01390, HG02837
Known GenesEMILIN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641577
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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