A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10564555



Internal ID5072606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:83988765..84034561hg38UCSC Ensembl
Innerchr2:83988767..84034559hg38UCSC Ensembl
Outerchr2:83988763..84034563hg38UCSC Ensembl
chr2:84215889..84261685hg19UCSC Ensembl
Innerchr2:84215891..84261683hg19UCSC Ensembl
Outerchr2:84215887..84261687hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3845797
hg1945797
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591503
Supporting Variants
SamplesNA18541
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10564555
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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