A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10414792



Internal ID4379861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14481008..14500286hg38UCSC Ensembl
Innerchr2:14481008..14500286hg38UCSC Ensembl
Outerchr2:14480508..14500786hg38UCSC Ensembl
chr2:14621132..14640410hg19UCSC Ensembl
Innerchr2:14621132..14640410hg19UCSC Ensembl
Outerchr2:14620632..14640910hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3819279
hg1919279
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589889
Supporting Variants
SamplesHG03907
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10414792
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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