A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594105



Internal ID6981425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208105293..208109290hg38UCSC Ensembl
Innerchr2:208105443..208109140hg38UCSC Ensembl
Outerchr2:208105143..208109440hg38UCSC Ensembl
chr2:208970017..208974014hg19UCSC Ensembl
Innerchr2:208970167..208973864hg19UCSC Ensembl
Outerchr2:208969867..208974164hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383998
hg193998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10832954, essv10832952, essv10832940, essv10832955, essv10832937, essv10832931, essv10832935, essv10832943, essv10832953, essv10832945, essv10832946, essv10832941, essv10832927, essv10832932, essv10832950, essv10832929, essv10832951, essv10832933, essv10832947, essv10832939, essv10832938, essv10832949, essv10832930, essv10832934, essv10832944, essv10832942, essv10832928, essv10832936, essv10832948
SamplesNA20874, HG00592, HG03965, NA20508, HG04194, HG03753, HG02784, HG04094, HG04018, HG03895, HG04022, HG03943, NA21130, HG02655, HG03234, NA20889, NA21114, HG03902, HG03697, HG03785, HG02731, HG00273, HG04093, HG03653, NA21144, HG03702, HG03870, HG04161, HG04198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594105
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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