A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607246



Internal ID6994180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154596164..154596932hg38UCSC Ensembl
Innerchr5:154596195..154596902hg38UCSC Ensembl
Outerchr5:154596134..154596963hg38UCSC Ensembl
chr5:153975724..153976492hg19UCSC Ensembl
Innerchr5:153975755..153976462hg19UCSC Ensembl
Outerchr5:153975694..153976523hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12105362, essv12105363
SamplesHG02976, NA19449
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607246
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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