A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588803



Internal ID6629094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215175575..215188941hg38UCSC Ensembl
Innerchr1:215175575..215188941hg38UCSC Ensembl
Outerchr1:215175445..215189075hg38UCSC Ensembl
chr1:215348918..215362284hg19UCSC Ensembl
Innerchr1:215348918..215362284hg19UCSC Ensembl
Outerchr1:215348788..215362418hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3813367
hg1913367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10292589, essv10292588
SamplesHG02470, HG02051
Known GenesKCNK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588803
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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