A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594477



Internal ID6981797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224677390..224679238hg38UCSC Ensembl
Innerchr2:224677407..224679222hg38UCSC Ensembl
Outerchr2:224677374..224679255hg38UCSC Ensembl
chr2:225542107..225543955hg19UCSC Ensembl
Innerchr2:225542124..225543939hg19UCSC Ensembl
Outerchr2:225542091..225543972hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg381849
hg191849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10867432, essv10867433, essv10867431
SamplesNA19308, HG01431, HG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594477
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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