A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664949



Internal ID9931054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77124937..77131827hg38UCSC Ensembl
chr7:76754254..76761144hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386891
hg196891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5434967, essv5629593, essv5935166, essv5737009, essv6000566
SamplesNA19172, NA19982, NA19380, NA19376, NA19430
Known GenesCCDC146
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664949
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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