A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9889484



Internal ID2457631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23540859..23548580hg38UCSC Ensembl
Innerchr1:23541359..23548080hg38UCSC Ensembl
Outerchr1:23539858..23549580hg38UCSC Ensembl
chr1:23867350..23875071hg19UCSC Ensembl
Innerchr1:23867850..23874571hg19UCSC Ensembl
Outerchr1:23866350..23876071hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387722
hg197722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585484
Supporting Variants
SamplesHG02164
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9889484
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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