A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10515043



Internal ID918546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56431186..56471336hg38UCSC Ensembl
Innerchr2:56431209..56471313hg38UCSC Ensembl
Outerchr2:56431163..56471359hg38UCSC Ensembl
chr2:56658321..56698471hg19UCSC Ensembl
Innerchr2:56658344..56698448hg19UCSC Ensembl
Outerchr2:56658298..56698494hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3840151
hg1940151
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590886
Supporting Variants
SamplesHG00542
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10515043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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