A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676273



Internal ID9595692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63980953..63982330hg38UCSC Ensembl
chr1:64446625..64448002hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381378
hg191378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6115168, essv6261741, essv5696369, essv5435916, essv6029525, essv6153587, essv5851239, essv6093436, essv5782417, essv6108945, essv6100477, essv6498257, essv5734568, essv6241176, essv6480138, essv6386263, essv6542941, essv6420480, essv5408743, essv6305548, essv6143999, essv5744968, essv6219157
SamplesNA18964, NA18605, HG00536, HG00705, NA18963, HG00404, NA18626, HG00479, NA18617, HG00628, NA18637, HG00584, NA18539, HG00672, NA18597, HG00595, NA18983, HG00443, NA18631, HG00442, HG00473, HG00704, NA18555
Known GenesROR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676273
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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