A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10487689



Internal ID4754532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46421966..46426476hg38UCSC Ensembl
Innerchr2:46422466..46425976hg38UCSC Ensembl
Outerchr2:46420966..46427476hg38UCSC Ensembl
chr2:46649105..46653615hg19UCSC Ensembl
Innerchr2:46649605..46653115hg19UCSC Ensembl
Outerchr2:46648105..46654615hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384511
hg194511
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590607
Supporting Variants
SamplesNA10847
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10487689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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