A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591059



Internal ID6631343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63513836..63516951hg38UCSC Ensembl
Innerchr2:63513861..63516926hg38UCSC Ensembl
Outerchr2:63513811..63516976hg38UCSC Ensembl
chr2:63740970..63744085hg19UCSC Ensembl
Innerchr2:63740995..63744060hg19UCSC Ensembl
Outerchr2:63740945..63744110hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg383116
hg193116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10522207, essv10522212, essv10522205, essv10522204, essv10522208, essv10522209, essv10522210, essv10522206, essv10522203, essv10522211
SamplesNA19023, HG03295, NA20362, NA19428, NA19153, NA18498, NA19462, HG01326, HG02923, NA20359
Known GenesWDPCP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591059
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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