A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926500



Internal ID6625855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46884690..46887605hg38UCSC Ensembl
Innerchr1:46884742..46887554hg38UCSC Ensembl
Outerchr1:46884639..46887657hg38UCSC Ensembl
chr1:47350362..47353277hg19UCSC Ensembl
Innerchr1:47350414..47353226hg19UCSC Ensembl
Outerchr1:47350311..47353329hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg382916
hg192916
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585942
Supporting Variants
SamplesNA20790
Known GenesCYP4Z2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926500
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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