A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663227



Internal ID9929332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65084144..65773665hg38UCSC Ensembl
chr7:64544522..65238652hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38689522
hg19694131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1213e199
Supporting Variantsessv5518159, essv6545364, essv5755273, essv5737868, essv5829048, essv6038563, essv6368750, essv5825898, essv5732878, essv5480903, essv6439331, essv5699541, essv6328701, essv5907030, essv6001912, essv5860768
SamplesHG00626, HG00592, NA19076, HG01070, HG00501, HG00281, NA19372, HG00313, HG00436, HG00275, HG01204, NA19652, HG00638, HG00259, HG00310, NA11843
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, ZNF92
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663227
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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