A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10163865



Internal ID2780166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159150272..159155774hg38UCSC Ensembl
Innerchr1:159150272..159155774hg38UCSC Ensembl
Outerchr1:159149802..159156128hg38UCSC Ensembl
chr1:159120062..159125564hg19UCSC Ensembl
Innerchr1:159120062..159125564hg19UCSC Ensembl
Outerchr1:159119592..159125918hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg385503
hg195503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587695
Supporting Variants
SamplesHG02455
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10163865
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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