A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591536



Internal ID6978864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85982077..85987364hg38UCSC Ensembl
Innerchr2:85982078..85987363hg38UCSC Ensembl
Outerchr2:85982076..85987365hg38UCSC Ensembl
chr2:86209200..86214487hg19UCSC Ensembl
Innerchr2:86209201..86214486hg19UCSC Ensembl
Outerchr2:86209199..86214488hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg385288
hg195288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10568938, essv10568942, essv10568950, essv10568946, essv10568929, essv10568940, essv10568932, essv10568939, essv10568925, essv10568948, essv10568926, essv10568933, essv10568947, essv10568937, essv10568941, essv10568935, essv10568934, essv10568949, essv10568952, essv10568944, essv10568931, essv10568943, essv10568927, essv10568945, essv10568924, essv10568936, essv10568928, essv10568951, essv10568930
SamplesNA18924, HG02702, NA18881, NA20332, NA19171, NA19315, NA18498, HG02634, NA19372, NA20127, HG03114, NA19707, NA19152, NA19327, NA19338, HG03109, NA19375, HG02455, HG02807, HG03473, NA19475, NA20357, NA20348, HG03025, HG03063, HG03351, HG02676, NA18522, HG02006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591536
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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