A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10750965



Internal ID658284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167315957..167327063hg38UCSC Ensembl
Innerchr2:167315957..167327063hg38UCSC Ensembl
Outerchr2:167315457..167327563hg38UCSC Ensembl
chr2:168172467..168183573hg19UCSC Ensembl
Innerchr2:168172467..168183573hg19UCSC Ensembl
Outerchr2:168171967..168184073hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3811107
hg1911107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593282
Supporting Variants
SamplesHG00304
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10750965
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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