A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517318



Internal ID6529288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57293125..57428631hg38UCSC Ensembl
Innerchr2:57293135..57428622hg38UCSC Ensembl
Outerchr2:57293116..57428641hg38UCSC Ensembl
chr2:57520260..57655766hg19UCSC Ensembl
Innerchr2:57520270..57655757hg19UCSC Ensembl
Outerchr2:57520251..57655776hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38135507
hg19135507
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590927
Supporting Variants
SamplesNA20544
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517318
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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