A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568958



Internal ID570774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86055590..86283809hg38UCSC Ensembl
Innerchr2:86055740..86283659hg38UCSC Ensembl
Outerchr2:86055440..86283959hg38UCSC Ensembl
chr2:86282713..86510932hg19UCSC Ensembl
Innerchr2:86282863..86510782hg19UCSC Ensembl
Outerchr2:86282563..86511082hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38228220
hg19228220
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591540
Supporting Variants
SamplesHG00246
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568958
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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