A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10828683



Internal ID5661410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206134490..206135538hg38UCSC Ensembl
Innerchr2:206134492..206135536hg38UCSC Ensembl
Outerchr2:206134488..206135540hg38UCSC Ensembl
chr2:206999214..207000262hg19UCSC Ensembl
Innerchr2:206999216..207000260hg19UCSC Ensembl
Outerchr2:206999212..207000264hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594062
Supporting Variants
SamplesNA19072
Known GenesNDUFS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10828683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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