A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674844



Internal ID9594263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88039225..88043267hg38UCSC Ensembl
chr7:87668540..87672582hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg384043
hg194043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6106447, essv5406981, essv5531312, essv6586001, essv6077260, essv6365265, essv5441326, essv5529934, essv6371269
SamplesHG00323, HG00313, NA12342, HG00338, NA12829, NA12400, NA12890, HG01334, NA06984
Known GenesADAM22
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674844
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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