A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10291962



Internal ID293778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215058425..215081577hg38UCSC Ensembl
Innerchr1:215058425..215081577hg38UCSC Ensembl
Outerchr1:215057925..215082077hg38UCSC Ensembl
chr1:215231768..215254920hg19UCSC Ensembl
Innerchr1:215231768..215254920hg19UCSC Ensembl
Outerchr1:215231268..215255420hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3823153
hg1923153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588798
Supporting Variants
SamplesNA21093
Known GenesKCNK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10291962
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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