A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1213e199



Internal ID22758986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65084144..65784399hg38UCSC Ensembl
chr7:64544522..65249386hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38700256
hg19704865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663227, esv2670004, esv2662226, esv2671249, esv2664444
SamplesHG00626, HG00592, NA19909, NA18565, HG00315, NA12340, NA18616, HG01051, NA19076, NA20796, HG01070, HG00501, NA20798, NA19062, NA19384, HG00281, NA12275, NA19372, NA19985, HG00313, HG00436, HG00275, HG00404, HG00146, HG01204, NA19652, HG00638, HG01375, NA20797, HG00259, HG00174, HG00310, NA11843
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, ZNF92
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1213e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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