A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9880911



Internal ID6506204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20170690..20171242hg38UCSC Ensembl
Innerchr1:20170690..20171242hg38UCSC Ensembl
Outerchr1:20170690..20171242hg38UCSC Ensembl
chr1:20497183..20497735hg19UCSC Ensembl
Innerchr1:20497183..20497735hg19UCSC Ensembl
Outerchr1:20497183..20497735hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585416
Supporting Variants
SamplesHG02392
Known GenesPLA2G2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9880911
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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