A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11887043



Internal ID4684031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44668009..44669675hg38UCSC Ensembl
Innerchr5:44668009..44669675hg38UCSC Ensembl
Outerchr5:44667785..44669894hg38UCSC Ensembl
chr5:44668111..44669777hg19UCSC Ensembl
Innerchr5:44668111..44669777hg19UCSC Ensembl
Outerchr5:44667887..44669996hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381667
hg191667
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604927
Supporting Variants
SamplesHG04209
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11887043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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