A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675854



Internal ID9595273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137888261..137889083hg38UCSC Ensembl
chr7:137573007..137573829hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5571660, essv6395646, essv5456230, essv6402411, essv6452473, essv5433237, essv6583072, essv6332751, essv5494586, essv6538120, essv6523445
SamplesNA12004, NA12891, HG00281, NA20810, HG01047, NA11894, NA11881, NA20778, NA20803, NA20758, NA20528
Known GenesCREB3L2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675854
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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