A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659253



Internal ID9925358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82766397..82770103hg38UCSC Ensembl
Outerchr5:82766026..82770473hg38UCSC Ensembl
Innerchr5:82062216..82065922hg19UCSC Ensembl
Outerchr5:82061845..82066292hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1026e199
Supporting Variantsessv5487219, essv5901773, essv5800854, essv5846182, essv6030238, essv6177507, essv6081782, essv5938695, essv5427981, essv5747193, essv5581128, essv6566253, essv5814776, essv6586678, essv5673699, essv5832627, essv5924948, essv5492544
SamplesHG01441, HG01462, HG01359, HG01374, HG01465, HG01366, HG01351, HG01134, HG01495, HG01136, HG01498, HG01497, HG01375, HG01494, HG01113, HG01137, HG01342, HG01112
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659253
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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