A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676268



Internal ID4720602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128465570..128466808hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6545773, essv5565983, essv5798935, essv5630883, essv5723073, essv5795260, essv6495770, essv5481152, essv6159952, essv6313752, essv6207141, essv6412473, essv5918171, essv5746892, essv5762812
SamplesNA19248, NA19445, NA19311, NA19455, NA19359, NA19920, NA19355, NA19908, NA19247, NA19377, NA19462, NA19446, NA19399, NA19350, NA19468
Known GenesRAB7A
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676268
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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