A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594481



Internal ID6634757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224880804..224883527hg38UCSC Ensembl
Innerchr2:224880814..224883517hg38UCSC Ensembl
Outerchr2:224880794..224883537hg38UCSC Ensembl
chr2:225745521..225748244hg19UCSC Ensembl
Innerchr2:225745531..225748234hg19UCSC Ensembl
Outerchr2:225745511..225748254hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg382724
hg192724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10867441, essv10867440
SamplesNA20856, NA21088
Known GenesDOCK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594481
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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