A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591550



Internal ID6978878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86548800..86549933hg38UCSC Ensembl
Innerchr2:86548819..86549915hg38UCSC Ensembl
Outerchr2:86548782..86549952hg38UCSC Ensembl
chr2:86775923..86777056hg19UCSC Ensembl
Innerchr2:86775942..86777038hg19UCSC Ensembl
Outerchr2:86775905..86777075hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381134
hg191134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10568988, essv10568986, essv10568984, essv10568981, essv10568982, essv10568995, essv10568996, essv10568994, essv10568992, essv10568998, essv10568985, essv10568991, essv10568993, essv10568989, essv10568987, essv10568997, essv10568990, essv10568983
SamplesHG02360, NA18616, NA18940, HG02187, NA18990, HG00419, NA18544, HG00443, HG02152, HG03636, HG02408, HG00407, NA18535, HG01798, HG02139, HG02181, HG00409, HG02182
Known GenesCHMP3, RNF103-CHMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591550
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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