A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10281530



Internal ID629954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209586152..209587922hg38UCSC Ensembl
Innerchr1:209586152..209587922hg38UCSC Ensembl
Outerchr1:209585902..209588193hg38UCSC Ensembl
chr1:209759497..209761267hg19UCSC Ensembl
Innerchr1:209759497..209761267hg19UCSC Ensembl
Outerchr1:209759247..209761538hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381771
hg191771
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588705
Supporting Variants
SamplesHG00275
Known GenesCAMK1G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10281530
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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