A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594458



Internal ID6981778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224194051..224203202hg38UCSC Ensembl
Innerchr2:224194053..224203201hg38UCSC Ensembl
Outerchr2:224194050..224203204hg38UCSC Ensembl
chr2:225058768..225067919hg19UCSC Ensembl
Innerchr2:225058770..225067918hg19UCSC Ensembl
Outerchr2:225058767..225067921hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg389152
hg199152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10865157
SamplesHG00543
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594458
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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