A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588738



Internal ID6976154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211807281..211808336hg38UCSC Ensembl
Innerchr1:211807287..211808331hg38UCSC Ensembl
Outerchr1:211807276..211808342hg38UCSC Ensembl
chr1:211980623..211981678hg19UCSC Ensembl
Innerchr1:211980629..211981673hg19UCSC Ensembl
Outerchr1:211980618..211981684hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10285481, essv10285483, essv10285480, essv10285482
SamplesHG01438, HG02215, HG00240, NA20758
Known GenesLPGAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588738
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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