A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604849



Internal ID6991877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41569163..41582604hg38UCSC Ensembl
Innerchr5:41569168..41582599hg38UCSC Ensembl
Outerchr5:41569158..41582609hg38UCSC Ensembl
chr5:41569265..41582706hg19UCSC Ensembl
Innerchr5:41569270..41582701hg19UCSC Ensembl
Outerchr5:41569260..41582711hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3813442
hg1913442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882042, essv11882048, essv11882044, essv11882045, essv11882040, essv11882047, essv11882052, essv11882051, essv11882049, essv11882050, essv11882043, essv11882046, essv11882041
SamplesNA19067, NA19005, NA18942, NA19002, NA18975, NA19007, NA18613, NA19000, NA18992, NA18971, NA18972, NA19063, NA19074
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604849
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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