A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662185



Internal ID9581604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3444165..3448343hg38UCSC Ensembl
chr4:3445892..3450070hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384179
hg194179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6367638, essv6182907, essv6415836, essv6514162, essv6333337
SamplesHG01052, HG00737, HG01080, HG01497, NA12347
Known GenesHGFAC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662185
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