A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605709



Internal ID6992647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:86519033..86521162hg38UCSC Ensembl
Innerchr5:86519044..86521151hg38UCSC Ensembl
Outerchr5:86519022..86521173hg38UCSC Ensembl
chr5:85814850..85816979hg19UCSC Ensembl
Innerchr5:85814861..85816968hg19UCSC Ensembl
Outerchr5:85814839..85816990hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11965566, essv11965567
SamplesHG03449, HG03464
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605709
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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