A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15811744



Internal ID4131975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12624248..12628769hg38UCSC Ensembl
Innerchr18:12624269..12628749hg38UCSC Ensembl
Outerchr18:12624228..12628790hg38UCSC Ensembl
chr18:12624247..12628768hg19UCSC Ensembl
Innerchr18:12624268..12628748hg19UCSC Ensembl
Outerchr18:12624227..12628789hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384522
hg194522
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641841
Supporting Variants
SamplesHG03744
Known GenesSPIRE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15811744
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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