A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10502043



Internal ID503859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:51071287..51110515hg38UCSC Ensembl
chr2:51298425..51337653hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3839229
hg1939229
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590745
Supporting Variants
SamplesNA20334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10502043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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