A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9924025



Internal ID404858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43641511..43647333hg38UCSC Ensembl
Innerchr1:43642011..43646833hg38UCSC Ensembl
Outerchr1:43640511..43648333hg38UCSC Ensembl
chr1:44107182..44113004hg19UCSC Ensembl
Innerchr1:44107682..44112504hg19UCSC Ensembl
Outerchr1:44106182..44114004hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg385823
hg195823
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585872
Supporting Variants
SamplesHG00120
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9924025
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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