A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658878



Internal ID9924983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1350709..1351527hg38UCSC Ensembl
chr17:1254003..1254821hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5807574, essv6374835, essv5703346, essv5796154, essv5431162, essv5671890, essv6188190, essv5538861, essv6268973, essv5934888, essv5912144
SamplesHG00542, HG00566, NA18985, NA18614, HG00629, HG00475, HG00651, HG00684, HG00704, HG00607, NA19085
Known GenesYWHAE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658878
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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