A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10466387



Internal ID1984102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36593172..36594422hg38UCSC Ensembl
Innerchr2:36593184..36594411hg38UCSC Ensembl
Outerchr2:36593161..36594434hg38UCSC Ensembl
chr2:36820315..36821565hg19UCSC Ensembl
Innerchr2:36820327..36821554hg19UCSC Ensembl
Outerchr2:36820304..36821577hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590396
Supporting Variants
SamplesHG01844
Known GenesFEZ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10466387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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