A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588799



Internal ID6629090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215059956..215074997hg38UCSC Ensembl
chr1:215233299..215248340hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3815042
hg1915042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10291963
SamplesNA21093
Known GenesKCNK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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