A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675475



Internal ID9941580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230012400..230014960hg38UCSC Ensembl
chr2:230877116..230879676hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382561
hg192561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6388537, essv5997299, essv5745411, essv5860137, essv6128997, essv5846122, essv6084419, essv6446578, essv5489361, essv6067344, essv6477887, essv5974927, essv5481743, essv6453470, essv5931982, essv6229021, essv5907990, essv6391273, essv5416537, essv6067137, essv6156258, essv6267510, essv6221821, essv6328483, essv5480488, essv5451288
SamplesHG01441, NA19664, HG00100, NA12750, HG00173, NA11992, NA07048, HG00185, HG00277, NA19651, HG00160, HG00637, HG00326, HG00108, NA10847, HG00266, NA19663, NA20581, NA12778, HG00246, HG01107, HG00278, NA20520, HG00319, NA20281, HG00125
Known GenesFBXO36
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675475
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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