A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10182287



Internal ID184103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168318752..168320920hg38UCSC Ensembl
Innerchr1:168318752..168320920hg38UCSC Ensembl
Outerchr1:168318410..168321222hg38UCSC Ensembl
chr1:168287990..168290158hg19UCSC Ensembl
Innerchr1:168287990..168290158hg19UCSC Ensembl
Outerchr1:168287648..168290460hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382169
hg192169
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587861
Supporting Variants
SamplesHG02614
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10182287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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