A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671752



Internal ID9937857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65448903..65449262hg38UCSC Ensembl
chr2:65676037..65676396hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5424118, essv6479562, essv6192674, essv5848459, essv5895365, essv6328089, essv5589383, essv6006303, essv6266821, essv5748537, essv6135460, essv6318646, essv6054943, essv5621295
SamplesHG01441, NA11829, NA07357, HG01492, NA20540, HG01048, HG01133, HG00353, HG00136, NA20520, NA12830, HG00372, HG00274, HG01097
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671752
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer