A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588800



Internal ID6629091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215088232..215090724hg38UCSC Ensembl
Innerchr1:215088232..215090724hg38UCSC Ensembl
Outerchr1:215087971..215090832hg38UCSC Ensembl
chr1:215261575..215264067hg19UCSC Ensembl
Innerchr1:215261575..215264067hg19UCSC Ensembl
Outerchr1:215261314..215264175hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382493
hg192493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10291964
SamplesHG02757
Known GenesKCNK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588800
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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