A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673128



Internal ID9939233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107492590..107494135hg38UCSC Ensembl
chr8:108504818..108506363hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381546
hg191546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1301e199
Supporting Variantsessv5485602, essv5586794, essv5824302, essv5477913, essv6180741, essv6170890, essv6234191, essv6103647, essv6572121, essv5542722, essv6215351, essv5935038, essv6426737, essv5866975, essv5893571, essv6239691, essv5796226, essv6251707, essv6497184, essv6011432
SamplesNA19055, NA18980, NA19067, NA19079, NA18985, NA19007, NA19077, NA18981, NA19009, NA19012, NA18961, NA19010, NA19085, NA19078, NA19060, NA19080, NA18984, NA18989, NA19065, NA19074
Known GenesANGPT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673128
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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