A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588705



Internal ID6976121
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10281530
SamplesHG00275
Known GenesCAMK1G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588705
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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