A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604846



Internal ID6991874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41564052..41583468hg38UCSC Ensembl
chr5:41564154..41583570hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3819417
hg1919417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882011, essv11882016, essv11882013, essv11882014, essv11882008, essv11882012, essv11882017, essv11882009, essv11882015, essv11882010
SamplesNA19067, NA19005, NA18942, NA18975, NA19007, NA19000, NA18971, NA18972, NA19063, NA19074
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604846
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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