A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10529756



Internal ID3998750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66093548..66100231hg38UCSC Ensembl
Innerchr2:66093548..66100231hg38UCSC Ensembl
Outerchr2:66093320..66100484hg38UCSC Ensembl
chr2:66320682..66327365hg19UCSC Ensembl
Innerchr2:66320682..66327365hg19UCSC Ensembl
Outerchr2:66320454..66327618hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg386684
hg196684
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591111
Supporting Variants
SamplesHG03646
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10529756
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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