A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10292590



Internal ID294406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215195266..215208829hg38UCSC Ensembl
Innerchr1:215195266..215208829hg38UCSC Ensembl
Outerchr1:215194766..215209329hg38UCSC Ensembl
chr1:215368609..215382172hg19UCSC Ensembl
Innerchr1:215368609..215382172hg19UCSC Ensembl
Outerchr1:215368109..215382672hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3813564
hg1913564
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588804
Supporting Variants
SamplesNA19397
Known GenesKCNK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10292590
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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