A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594467



Internal ID6981787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224376109..224378142hg38UCSC Ensembl
Innerchr2:224376109..224378142hg38UCSC Ensembl
Outerchr2:224375786..224378476hg38UCSC Ensembl
chr2:225240826..225242859hg19UCSC Ensembl
Innerchr2:225240826..225242859hg19UCSC Ensembl
Outerchr2:225240503..225243193hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg382034
hg192034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10865646, essv10865645
SamplesHG00590, NA18740
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594467
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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