A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591277



Internal ID6631561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74117985..74144281hg38UCSC Ensembl
Innerchr2:74118135..74144131hg38UCSC Ensembl
Outerchr2:74117835..74144431hg38UCSC Ensembl
chr2:74345112..74371408hg19UCSC Ensembl
Innerchr2:74345262..74371258hg19UCSC Ensembl
Outerchr2:74344962..74371558hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3826297
hg1926297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10542395
SamplesHG03679
Known GenesBOLA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591277
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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