A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10637285



Internal ID2751343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117799937..117806444hg38UCSC Ensembl
Innerchr2:117799937..117806444hg38UCSC Ensembl
Outerchr2:117799437..117806944hg38UCSC Ensembl
chr2:118557513..118564020hg19UCSC Ensembl
Innerchr2:118557513..118564020hg19UCSC Ensembl
Outerchr2:118557013..118564520hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg386508
hg196508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592145
Supporting Variants
SamplesHG02419
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10637285
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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