A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10169180



Internal ID170996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161620485..161628311hg38UCSC Ensembl
Innerchr1:161620485..161628311hg38UCSC Ensembl
Outerchr1:161620315..161628472hg38UCSC Ensembl
chr1:161590275..161598101hg19UCSC Ensembl
Innerchr1:161590275..161598101hg19UCSC Ensembl
Outerchr1:161590105..161598262hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg387827
hg197827
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587734
Supporting Variants
SamplesNA19072
Known GenesFCGR3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10169180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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