A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594338



Internal ID6634614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218410226..218424993hg38UCSC Ensembl
Innerchr2:218410726..218424493hg38UCSC Ensembl
Outerchr2:218409226..218425993hg38UCSC Ensembl
chr2:219274949..219289716hg19UCSC Ensembl
Innerchr2:219275449..219289216hg19UCSC Ensembl
Outerchr2:219273949..219290716hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3814768
hg1914768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10850507, essv10850508
SamplesNA19917, NA18620
Known GenesVIL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594338
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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