A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10872821



Internal ID1566678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229392198..229394377hg38UCSC Ensembl
Innerchr2:229392217..229394359hg38UCSC Ensembl
Outerchr2:229392180..229394396hg38UCSC Ensembl
chr2:230256914..230259093hg19UCSC Ensembl
Innerchr2:230256933..230259075hg19UCSC Ensembl
Outerchr2:230256896..230259112hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382180
hg192180
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594574
Supporting Variants
SamplesHG01447
Known GenesDNER
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10872821
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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