A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10525034



Internal ID526850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64252508..64257387hg38UCSC Ensembl
Innerchr2:64252508..64257387hg38UCSC Ensembl
Outerchr2:64252164..64257671hg38UCSC Ensembl
chr2:64479642..64484521hg19UCSC Ensembl
Innerchr2:64479642..64484521hg19UCSC Ensembl
Outerchr2:64479298..64484805hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384880
hg194880
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591077
Supporting Variants
SamplesHG01375
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10525034
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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