A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591226



Internal ID6978554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71297771..71350582hg38UCSC Ensembl
chr2:71524901..71577712hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3852812
hg1952812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10538269, essv10538267, essv10538266, essv10538268, essv10538270
SamplesHG02702, HG02798, HG03941, HG02804, HG02840
Known GenesZNF638
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591226
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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