A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10843561



Internal ID685887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214640490..214691499hg38UCSC Ensembl
Innerchr2:214640508..214691481hg38UCSC Ensembl
Outerchr2:214640472..214691517hg38UCSC Ensembl
chr2:215505214..215556223hg19UCSC Ensembl
Innerchr2:215505232..215556205hg19UCSC Ensembl
Outerchr2:215505196..215556241hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3851010
hg1951010
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594263
Supporting Variants
SamplesHG00323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10843561
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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