A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592562



Internal ID6979889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134729550..134733761hg38UCSC Ensembl
Innerchr2:134729700..134733611hg38UCSC Ensembl
Outerchr2:134729400..134733911hg38UCSC Ensembl
chr2:135487120..135491331hg19UCSC Ensembl
Innerchr2:135487270..135491181hg19UCSC Ensembl
Outerchr2:135486970..135491481hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg384212
hg194212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10682885, essv10682883, essv10682886, essv10682884, essv10682882, essv10682887
SamplesHG02570, HG03547, HG03563, NA20282, NA20281, NA19716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592562
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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