A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606196



Internal ID6993132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107498769..107508985hg38UCSC Ensembl
Innerchr5:107498769..107508985hg38UCSC Ensembl
Outerchr5:107498269..107509485hg38UCSC Ensembl
chr5:106834470..106844686hg19UCSC Ensembl
Innerchr5:106834470..106844686hg19UCSC Ensembl
Outerchr5:106833970..106845186hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3810217
hg1910217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12013965
SamplesNA19198
Known GenesEFNA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606196
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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