A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605560



Internal ID6972490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80182301..80187605hg38UCSC Ensembl
Innerchr5:80182314..80187592hg38UCSC Ensembl
Outerchr5:80182288..80187618hg38UCSC Ensembl
chr5:79478123..79483427hg19UCSC Ensembl
Innerchr5:79478136..79483414hg19UCSC Ensembl
Outerchr5:79478110..79483440hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg385305
hg195305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11955650, essv11955647, essv11955648, essv11955649
SamplesHG03372, HG02952, HG00740, NA19121
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605560
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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