A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3004990



Internal ID10677970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215021384..215021437hg38UCSC Ensembl
chr1:215194727..215194780hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7274557
SamplesHuRef
Known GenesKCNK2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3004990
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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