A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678778



Internal ID9944883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157421599..157423873hg38UCSC Ensembl
chr5:156848607..156850881hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382275
hg192275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6421738, essv5788697, essv6222669, essv6591338, essv5893173, essv5951318, essv6562103, essv6569567, essv5861845, essv6188119, essv6498504, essv6043114, essv6149756, essv6294582
SamplesNA19055, HG00671, NA19066, HG00689, NA19079, HG00683, HG00464, NA18637, NA18541, NA18941, NA19085, HG00698, NA19080, NA19074
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678778
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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