A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15778439



Internal ID5780255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2905712..2914645hg38UCSC Ensembl
Innerchr18:2905724..2914634hg38UCSC Ensembl
Outerchr18:2905701..2914657hg38UCSC Ensembl
chr18:2905710..2914643hg19UCSC Ensembl
Innerchr18:2905722..2914632hg19UCSC Ensembl
Outerchr18:2905699..2914655hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg388934
hg198934
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641578
Supporting Variants
SamplesHG03696
Known GenesEMILIN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15778439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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