A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591935



Internal ID6979263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108961957..108970510hg38UCSC Ensembl
Innerchr2:108961957..108970510hg38UCSC Ensembl
Outerchr2:108961457..108971010hg38UCSC Ensembl
chr2:109578413..109586966hg19UCSC Ensembl
Innerchr2:109578413..109586966hg19UCSC Ensembl
Outerchr2:109577913..109587466hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg388554
hg198554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10612312, essv10612314, essv10612313
SamplesHG00338, NA11840, NA20502
Known GenesEDAR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591935
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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