A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9879029



Internal ID6504322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19320693..19321848hg38UCSC Ensembl
Innerchr1:19320694..19321848hg38UCSC Ensembl
Outerchr1:19320693..19321849hg38UCSC Ensembl
chr1:19647187..19648342hg19UCSC Ensembl
Innerchr1:19647188..19648342hg19UCSC Ensembl
Outerchr1:19647187..19648343hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381156
hg191156
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585395
Supporting Variants
SamplesHG02309
Known GenesPQLC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9879029
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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