A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594073



Internal ID6981393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206841568..206843389hg38UCSC Ensembl
Innerchr2:206841568..206843389hg38UCSC Ensembl
Outerchr2:206841340..206843634hg38UCSC Ensembl
chr2:207706292..207708113hg19UCSC Ensembl
Innerchr2:207706292..207708113hg19UCSC Ensembl
Outerchr2:207706064..207708358hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10828724, essv10828727, essv10828726, essv10828729, essv10828728, essv10828725
SamplesHG02648, HG01504, HG02649, NA20534, NA20778, HG01191
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594073
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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