A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588513



Internal ID6628805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198074849..198256653hg38UCSC Ensembl
Innerchr1:198074849..198256653hg38UCSC Ensembl
Outerchr1:198074349..198257153hg38UCSC Ensembl
chr1:198043979..198225783hg19UCSC Ensembl
Innerchr1:198043979..198225783hg19UCSC Ensembl
Outerchr1:198043479..198226283hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38181805
hg19181805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10256437
SamplesHG02012
Known GenesNEK7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588513
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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