A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9880183



Internal ID6505476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20170406..20171255hg38UCSC Ensembl
Innerchr1:20170430..20171231hg38UCSC Ensembl
Outerchr1:20170382..20171279hg38UCSC Ensembl
chr1:20496899..20497748hg19UCSC Ensembl
Innerchr1:20496923..20497724hg19UCSC Ensembl
Outerchr1:20496875..20497772hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585415
Supporting Variants
SamplesHG03756
Known GenesPLA2G2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9880183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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