A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10472125



Internal ID5831779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40537667..40544888hg38UCSC Ensembl
Innerchr2:40537668..40544887hg38UCSC Ensembl
Outerchr2:40537666..40544889hg38UCSC Ensembl
chr2:40764807..40772028hg19UCSC Ensembl
Innerchr2:40764808..40772027hg19UCSC Ensembl
Outerchr2:40764806..40772029hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg387222
hg197222
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590462
Supporting Variants
SamplesNA19207
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10472125
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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