A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673935



Internal ID9940040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36455643..36456865hg38UCSC Ensembl
chr22:36851690..36852912hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6529238, essv6488432, essv6203295, essv6246831, essv6155013, essv6052795, essv6488600, essv6083403, essv5741070, essv5526318
SamplesNA19466, NA19332, NA19350, NA19359, NA19198, NA18874, NA19172, NA19445, NA19453, NA18858
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673935
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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