A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11863079



Internal ID3341869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34062591..34102829hg38UCSC Ensembl
Innerchr5:34063091..34102329hg38UCSC Ensembl
Outerchr5:34061591..34103829hg38UCSC Ensembl
chr5:34062696..34102934hg19UCSC Ensembl
Innerchr5:34063196..34102434hg19UCSC Ensembl
Outerchr5:34061696..34103934hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3840239
hg1940239
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604668
Supporting Variants
SamplesHG02981
Known GenesC1QTNF3-AMACR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11863079
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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