A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668364



Internal ID9934469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77776490..77796335hg38UCSC Ensembl
chr3:77825641..77845486hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3819846
hg1919846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5833671, essv5404591, essv6108751, essv5477196, essv5954966, essv6471653, essv5541546, essv6025940, essv6241521, essv6055272
SamplesNA18964, NA18611, HG00629, NA19077, HG00428, HG00404, HG00611, NA18961, NA18950, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668364
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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