A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10308242



Internal ID2158973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225441221..225446502hg38UCSC Ensembl
Innerchr1:225441223..225446500hg38UCSC Ensembl
Outerchr1:225441219..225446504hg38UCSC Ensembl
chr1:225628923..225634204hg19UCSC Ensembl
Innerchr1:225628925..225634202hg19UCSC Ensembl
Outerchr1:225628921..225634206hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg385282
hg195282
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588991
Supporting Variants
SamplesHG01951
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10308242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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