A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10532468



Internal ID5392939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67044178..67071806hg38UCSC Ensembl
Innerchr2:67044178..67071806hg38UCSC Ensembl
Outerchr2:67043678..67072306hg38UCSC Ensembl
chr2:67271310..67298938hg19UCSC Ensembl
Innerchr2:67271310..67298938hg19UCSC Ensembl
Outerchr2:67270810..67299438hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3827629
hg1927629
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591138
Supporting Variants
SamplesNA18940
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10532468
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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