A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663234



Internal ID9582653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224871252..224872931hg38UCSC Ensembl
chr2:225735969..225737648hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg381680
hg191680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6562970, essv6361308
SamplesHG01134, HG00158
Known GenesDOCK10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663234
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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