A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594475



Internal ID6981795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224656148..224658408hg38UCSC Ensembl
Innerchr2:224656148..224658408hg38UCSC Ensembl
Outerchr2:224655927..224658640hg38UCSC Ensembl
chr2:225520865..225523125hg19UCSC Ensembl
Innerchr2:225520865..225523125hg19UCSC Ensembl
Outerchr2:225520644..225523357hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg382261
hg192261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10867428, essv10867429
SamplesNA20506, HG00239
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594475
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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