A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604557



Internal ID6991585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:30477768..30563752hg38UCSC Ensembl
Innerchr5:30477797..30563724hg38UCSC Ensembl
Outerchr5:30477740..30563781hg38UCSC Ensembl
chr5:30477875..30563859hg19UCSC Ensembl
Innerchr5:30477904..30563831hg19UCSC Ensembl
Outerchr5:30477847..30563888hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3885985
hg1985985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1085e214
Supporting Variantsessv11853325
SamplesNA20587
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604557
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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