A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12042912



Internal ID6816910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123203063..123213643hg38UCSC Ensembl
chr5:122538757..122549337hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3810581
hg1910581
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606597
Supporting Variants
SamplesNA20897
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12042912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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